Antibody & Biopsy
Patient Information


Absent muscles
Actin aggregate: ACTA1; 1q42
Autophagy, high: VMA21; Xq28 
Broad A band
Carey-Fineman-Ziter: TMEM8C; 9q34
Central core: RYR1; 19q13
Centronuclear (Myotubular)
CMH4: MYBPC3; 11p11
CMND: SPTBN4; 19q13
  COL12A1: 6q13
  MED: COL9A2 & COL9A3
Cylindrical spirals
Cytoplasmic Body (Spheroid)
Danon: LAMP2; Xq24
Diarrhea & Deafness
DOPA-responsive dystonia
Ehlers-Danlos: FKBP14; 7p14
EMARDD: MEGF10; 5q23
Fiber Type
  Size Δ (CFTD)
  Type I predominance
    ZAK: 2q31
  Type 2 atrophy: MYL1; 2q34
Fingerprint body
FSH dystrophy: 4q35
Hyaline body: MYH7; 14q11
IBM3: MYH2; 17p13
Lethal congenital: CNTN1; 12q11
Mallory body: SEPN1; 1p36
Mental retardation: CUL4B; Xq24
Metabolic disorders
Multicore (Minicore)
Muscular Dystrophy (CMD)
Myasthenic Syndromes
Myopathy: CACNA1S; 1q32
Myosin storage: MYH7; 14q11
Myotonic dystrophy 1: DMPK; 19q13
Native American: Stac3; 12q13
Nemaline rod
Neuropathic syndromes
Perifascicular myopathy, neonatal
Reducing body: FHL1; Xq26
Sarcotubular (LGD 2H): TRIM32; 9q31
Shwachman–Diamond: SBDS; 7q11
Skeletal disorders + Weakness
Spheroid body: MYOT; 5q31
Spindle excess: HRAS; 11p15
Tel Hashomer camptodactyly
Thin filaments, Excess: α-Actin; 1q42
Triadin knockout: TRDN; 6q22
Trilaminar myopathy
Type 1 fiber smallness
Williams-Beuren syndrome
Woods-Black-Norbury syndrome
Zebra body: α-Actin; 1q42
Adducted thumbs & Ophthalmoplegia
Axon loss, Large myelinated & CNS Δ
α-Dystroglycan disorders (MDDG)
Cataracts & ID: INPP5K; 17p13
Cerebellar atrophy
CMD + Cardiomyopathy: Titin; 2q24
Desmin inclusions: SEPN1; 1p36
Dysferlin: 2p13
EBSMD: Plec1; 8q24
Fukuyama: Fukutin; 9q31
Glycosylation disorders
  Muscle (MDDGA)
Integrin α-7: 12q13
Integrin α-9: 3p23
Laminin-α2 (Merosin)
  Deficient (MDC1A): 6q22
  Normal: "Pure" form
Marinesco-Sjögren: SIL1; 5q31
MDCDC: TRIP4; 15q22
Mitochondrial structure: CHKB; 22q13
Multisystem disorder: PIGY; 4q22
Muscle-Eye-Brain Disorders (MEB)
Muscle hypertrophy
  Mental retardation
  Respiratory failure (MDC1B): 1q42
  Muscles large (MDC1C): FKRP; 19q13
  Retardation (MDC1D): LARGE; 22q12
Myasthenic syndrome: DOK7; 4p16
Nuclear membrane
  LMNA; 1q22
  SYNE1; 6q25
Rigid spine with CMD
  SEPN1: 1p36
  Lamin A/C: 1q21
  SECISBP2: 9q22
  Other rigid spine syndromes
Santavuori (Finn): POMGnT1; 1p34
Telethonin: 17q12
Ullrich 1
    1; 21q22
    2; 21q22
    3; 2q37
Ullrich 2: COL12A1; 6q13
Walker-Warburg (MDDGA)


Brachial plexus
Cardiofacial syndrome
Depressor anguli oris
Eye (Extraocular muscles)
  Congenital fibrosis
  Duane's syndrome
  Horizontal gaze
    HGPPS: 1; 2
  Möbius syndrome
  Superior rectus
Finger extensors
Palmaris longis
Peroneus tertius
Poland syndrome
Prune belly
Psoas (CHILD)
Thenar eminence

Congenital Weakness: General

from A Kornberg MD

Congenital Myopathies
Clinical Disorder
Eye MTM1, DNM2, RYR1
Respiratory weakness
  > Limbs ACTA1, NEB, SEPN1, TPM3
  Birth MTM1, DNM2, NM, RYR1
  Weak MTM1, DNM2, NM, RYR1
  Congenital MTM1, NM, RYR1, DM1
  Axial RYR1, SEPN1
Bulbar weak MTM1, NM, RYR1
Spine & Skeletal
  Foot drop/
    Pes cavus
  TPM2, TPM3
  Rigid RYR1, SEPN1, LMNA
  Scoliosis NM, RYR1, SEPN1
  Arthrogryposis KLHL40, BIN1
Slow movement KBTBD13
Tremors TNNT1
Cardiac ACTA1, MYH7, TTN,

Central Core Disease ± Malignant Hyperthermia

  Ryanodine Receptor 1 (RYR1; RyR) ; Chromosome 19q13.2; Dominant or Recessive

RyR protein
  RyR clinical syndromes
      Central core diseases
        Congenital myopathy
        Cores, Rods & Malignant Hyperthermia
        Limb-Girdle Syndrome: Onset in teens
        Minicores, Transient
        Fetal akinesia
      Malignant Hyperthermia: Onset in teens
      King-Denborough Syndrome
      High serum CK: Asymptomatic
      Congenital + Type 1 fibers (CNMDU1)
      Axial myopathy, Adult onset
      Dusty Core
      Central core diseases
        Minicores, Transient
        Fetal akinesia
        Mild phenotype & Recessive inheritance
        Samaritan myopathy
      Nemaline rods + External ophthalmoplegia
      Congenital myopathy
        Centronuclear myopathy
        Fatigable weakness
        Focal lost striations
  Core syndromes: Other
    Myopathy with Myofibril Δ: PYROXD1
  Multicore/Minicore syndromes

NADH Stain

Nemaline (Rod) Myopathies

Clinical features: General
Laboratory features: General

Hereditary Types
  NEM1: α-tropomyosin 3 (TPM3); 1q21; Dom or Rec
  NEM2: Nebulin (NEB); 2q23; Recessive
  NEM3: α-Actin (ACTA1); 1q42
  NEM4: β-tropomyosin(TPM2); 9p13; Dom or Rec
  NEM5: Troponin T1 (TNNT1); 19q13; Recessive
  NEM6: KBTBD13; 15q22; Dominant
  NEM7: Cofilin-2 (CFL2); 14q13; Recessive
  NEM8: KLHL40; 3p22; Recessive
  NEM9: KLHL41; 2q31; Recessive
  NEM10: LMOD3; 3p14; Recessive
  NEM11: MYPN; 10q21; Recessive
  NEM: Ryanodine receptor (Ryr1); 19q13
    Rods + Cores: Dominant
    Rods + Ophthalmoplegia: Recessive
  NEM: RYR3; 15q13; Recessive
  Arthrogryposis (DA2B2): TNNT3; 11p15
    Cap myopathy
    Klippel Feil 4: MYO18B
    Myopathy with Myofibril Δ: PYROXD1
    Pyruvate carboxylase deficiency
    Rod myopathy, mild
    Zebra body

Sporadic disorders with rods
  Infant onset myopathy
  Adult onset myopathy (SLONM)
  HIV rod myopathy
  Target fibers (Acute Denervation)
Rod myopathy: Distal weakness & contractures

From A Connolly

Rod myopathies: General features 22

ROD MYOPATHIES: Specific syndromes

NEM1 Rod myopathy
  α-Tropomyosin 3 (TPM3)
; Chromosome 1q21.3; Dominant or Recessive

NEM2 Rod myopathy
  Nebulin (NEB)
; Chromosome 2q23.3; Recessive >> Dominant

NEM3 Rod myopathy
  α-Actin (ACTA1; Skeletal muscle)
; Chromosome 1q42.13; Dominant or Sporadic, > Recessive

NEM4 Rod myopathy
  β-Tropomyosin (TPM2)
; Chromosome 9p13.3; Dominant or Recessive

NEM5 Rod myopathy 13
  Troponin T1 (Skeletal, Slow; TNNT1)
; Chromosome 19q13.42; Recessive

NEM6 Rod myopathy with Slow movements 27
  Kelch-repeat and BTB (POZ) domain containing 13 (KBTBD13) ; Chromosome 15q22.31; Dominant

NEM7 Rod myopathy 65
  Cofilin-2 (CFL2) ; Chromosome 14q13.1; Recessive

NEM8 Nemaline Rod myopathy, severe 107
  Kelch-like family member 40 (KLHL40; KBTBD5; Sarcosynapsin; SYRP) ; Chromosome 3p22.1; Recessive

NEM9: Nemaline Rod myopathy 9 111
  Kelch-like family member 41 (KLHL41; KBTBD10) ; Chromosome 2q31.1; Recessive
NEM: Nemaline Rod myopathy 10 (NEM10) 115
  Leiomodin-3 (LMOD3) ; Chromosome 3p14.1; Recessive
NEM 11: Rod myopathy 136
  Myopalladin (MYPN) ; Chromosome 10q21.3; Recessive
NEM: Nemaline Rod myopathy 144
  Ryanodine Receptor 3 (RYR3) ; Chromosome 15q13-q14; Recessive

Rod myopathy: Mild 64

Rod myopathy: Other forms

Centronuclear (Myotubular) Myopathy 89

    CNM1: Dynamin 2; 19p13
      CNM modifier: MTMR14
    CNM3: MYF6; 12q21
    CNM4: CCDC78; 16p13
    CNM: BIN1: 2q14
    CNM2: BIN1: 2q14
    CNM5 (+ DCM): SPEG; 2q35
    CNM6: ZAK: 2q31
    CNM: RYR1: 19q13
    CNM: TTN; 2q31
    CNM: GLDN; 15q21
    Canine (Labrador): PTPLA
    CNMX: MTM1; Xq28
  Differential diagnosis
    Myotonic dystrophy 1, Congenital

Congenital Myopathy: Triadin knockout syndrome 138
  Triadin (TRDN) ; Chromosome 6q22.31; Recessive

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy: Typical Features

Fukuyama congenital muscular dystrophy (MDDGA4): Muscle-Eye-Brain

  Fukutin (FKTN) ; Chromosome 9q31.2; Recessive

Congenital muscular dystrophy: Merosin (laminin α2-chain) deficient (MDC1A)

  Laminin α2 (LAMA2) ; Chromosome 6q22.33; Recessive

CMD: Normal merosin

Normal Merosin: "Pure" form of congenital MD


Congenital MD with integrin α-7 mutations

  Integrin α-7 (ITGA7) ; Chromosome 12q13.2; Recessive

Congenital MD with Joint Hyperlaxity 63

  ? Integrin-α9 (ITGA9) ; Chromosome 3p22.2; Recessive

Congenital MD with CNS atrophy & Absent large myelinated peripheral nerve axons


Congenital MD with cerebellar atrophy

  ? Autosomal recessive

Muscle-Eye-Brain Disorders 19

Muscle-eye-brain disease (Santavuori)

Congenital Muscular Dystrophy with Familial Junctional Epidermolysis Bullosa (EBSMD)

  Plectin (Plec1) ; Chromosome 8q24.3; Recessive

Congenital muscular dystrophy with Mitochondrial Structural Abnormalities (Megaconial) (MDCMC) 2

  Choline kinase beta (CHKB) ; Chromosome 22q13.33; Recessive

From D Cummings MD
Congenital MD + Rigid Spine

Congenital muscular dystrophy with early Spine Rigidity

  Selenoprotein N, 1 (SEPN1; SELENON) ; Chromosome 1p36.11; Recessive

Congenital muscular dystrophy with respiratory failure & muscle hypertrophy (CMD1B; MDC1B) 7

  Chromosome 1q42; Recessive

Early-onset Myopathy with Areflexia, Respiratory Distress & Dysphagia (EMARDD) 87

  Multiple epidermal growth factor-like domains 10 (MEGF10) ; Chromosome 5q23.2; Recessive

Congenital Muscular Dystrophy with Muscle hypertrophy (MDC1C; MDDGB5) 16, 26

  Fukutin-related protein (FKRP) ; Chromosome 19q13.32; Recessive

Ullrich congenital muscular dystrophy 1 (UCMD1; Scleroatonic) 21

  Collagen, type VI, subunit α1 (COL6A1) ; Chromosome 21q22.3; Recessive or Dominant
  Collagen, type VI, subunit α2 (COL6A2) ; Chromosome 21q22.3; Recessive or Dominant
  Collagen, type VI, subunit α3 (COL6A3) ; Chromosome 2q37.3; Recessive or Dominant

Congenital Muscular Dystrophy with Mental Retardation & Abnormal Glycosylation (MDDGA6; MDC1D) 43

  LARGE (Acetylglucosaminyltransferase-like protein) ; Chromosome 22q12.3; Recessive

Congenital Muscular Dystrophy + Cataracts & Intellectual Disability (MDCCAID) 137

  Inositol polyphosphate-5-phosphatase K (INPP5K; SKIP) ; Chromosome 17p13.3; Recessive

Congenital Muscular Dystrophy with Adducted Thumbs, Ophthalmoplegia & Mental retardation 34

  Autosomal Recessive

CDG: Multisystem Disorder 131

  Phosphatidylinositol glycan anchor biosynthesis Class Y protein (PIGY) ; Chromosome 4q22.1; Recessive

Congenital muscular dystrophy & myasthenic syndrome 55

  DOK7 ; Chromosome 4p16.3; Recessive

Congenital disorder of Tendons, Bone, Muscle & Eyes 141

  Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 1 (P4HA1) ; Chromosome 10q22.1; Recessive

Intellectual Disability, Hypotonia, Motor Neuropathy & Deafness (CMND)

  β-IV-Spectrin, Nonerythrocytic (SPTBN4) ; Chromosome 19q13.2; Recessive


Congenital Myotonic Dystrophy
  Myotonin protein kinase; Chromosome 19; Dominant Congenital Facioscapulohumeral (FSH) Dystrophy
  Chromosome 4q35; Dominant Metabolic Myopathies Congenital Myasthenic Syndromes

Congenital Neuropathic Syndromes Rule out CNS hypotonia

Broad A band disease

Trilaminar myopathy

Zebra body myopathy 118

  α-Actin (ACTA1; Skeletal muscle) ; Chromosome 1q42.13; Sporadic, ? Dominant

Weakness with early skeletal disorders

Williams-Beuren syndrome

  Autosomal dominant contiguous gene syndrome; Chromosome 7q11.23
  Deleted genes: Elastin ; RFC2 ; LIM-kinase ; GTF3 muscle transcription factor (MusTRD1); GTF2I

Neonatal perifascicular myopathy 1

Immunoneurologic Disorder (Woods-Black-Norbury Syndrome)

  Dominant; Chromosome Xq26-qter

Congenital absence, weakness, or hypoplasia of muscles

Congenital Cranial Dysinnervation (CCDD)
Extraocular muscles
  CCDD: ECEL1; 2q37
  CCDD: COLA25A1; 4q25
  Congenital fibrosis
  Duane retraction syndromes (DRS)
  Holt-Oram: TBX5
  Möbius syndrome (MBS)
  Ptosis + Scoliosis
    HGPPS1: ROBO3; 11q24
    HGPPS2: DCC; 18q21
  Cardiofacial syndrome
  Depressor anguli oris
  Möbius syndrome
  Finger extensors
  Palmaris longis
  Thenar eminence
  Peroneus tertius
  Psoas (CHILD)
  Brachial plexus
  Poland syndrome
  Prune belly

Extraocular muscles


Depressor anguli oris: Cardiofacial syndrome
  Chromosome 22q11.2 (deletion) Dominant; Also Multifactorial

Also see: Congenital facial paresis

Absent Muscles of Mastication: Mouse model

Diaphragm Weakness 78


Holt-Oram Syndrome
  Human transcription factor TBX5 ; Chromosome 12q24.21; Dominant
Palmaris longus muscle
  Autosomal dominant with incomplete penetrance Finger & thumb extensors
  Autosomal Recessive

From: P Bailey

Poland Syndrome


Pectoral (Poland syndrome)

  Usually sporadic
  Chromosome 8q12.2-q21.2; Dominant Hypoplasia of Shoulder & Neck muscles 126
  Chromodomain helicase DNA-binding protein 7 (CHD7) ; Chromosome 8q12.2; Dominant (de novo) Superior transverse scapular ligament: Calcification
  Autosomal Dominant
Abdominal musculature: Prune belly syndrome
  Cholinergic receptor, muscarinic, 3 (CHRM3) ; Chromosome 1q43; Recessive & Sporadic

Osler 1901


Peroneus tertius muscle
  Autosomal recessive

Psoas (CHILD Syndrome)
  NAD(P)H Steroid dehydrogenase-like protein ; Chromosome Xq28; Dominant
  Emopamil-binding protein ; Chromosome Xq28; Dominant

Multicore (Minicore) Myopathy 12


ACADS: 12q24
CCDC78: 16p13
MEGF10: 5q23
MYH7: 14q11
RYR1: 19q13
SECISBP2: 9q22
SEPN1: 1p36
Titin: 2q31



Multicore myopathy: General Clinical Features
Multicore (Minicore) Disease
  Selenoprotein N, 1 (SEPN1) ; Chromosome 1p36.11; Recessive or Sporadic

Minicore myopathy with Ophthalmoplegia
Minicore myopathy: Antenatal onset with Arthrogryposis 33
Multicore myopathy: Mental retardation, Short stature & Hypogonadotropic hypogonadism (Chudley syndrome)
Multicore disease: Congenital myopathy + Fatal dilated cardiomyopathy (EOMFC)
  Titin ; Chromosome 2q31.2; Recessive

Congenital myopathy with Internal nuclei & Atypical Cores (Centronuclear myopathy 4 (CNM4) 93
  Coiled-coil domain-containing protein 78 (CCDC78) ; Chromosome 16p13.3; Dominant

Multiple structured Cores & Z-line Abnormalities (MsCD; MYOCOZ) 151
  Actinin, α-2 (ACTN2) ; Chromosome 1q43; Dominant, de novo

Congenital Multi-Minicore Myopathy 155

FMR1 autosomal homolog 1 (FXR1) ; Chromosome 3q26.33; Recessive

Congenital myopathy with excess of thin filaments 5

α-Actin (ACTA1; Skeletal muscle) ; Chromosome 1q42.13; Sporadic

Carey-Fineman-Ziter Syndrome 143

  Transmembrane protein 8C (TMEM8C; Myomaker; MYMK) ; Chromosome 9q34.2; Recessive

Reducing Body Myopathies 3, 4

  Four-and-a-half-LIM protein 1 (FHL1) ; Chromosome Xq26.3; Dominant or Semi-Dominant

Fingerprint Body Myopathy

Congenital myopathy with apoptotic changes 9

Hyaline Body Myopathies

MYH7: 14q11.2
  MSMA: Dominant
  MSMB (Scapuloperoneal 3): Recessive
  Scapuloperoneal 2: Dominant
Scapuloperoneal 1: FHL1; Xq26; Dominant

Hyaline Body Myopathy (Myosin Storage; MSMA) 44
  Myosin - Cardiac β heavy chain (MYH7) ; Chromosome 14q11.2; Sporadic or Dominant

Congenital Myopathy with Muscle Spindle Excess (CMEMS) 18

  V-HA-RAS Harvey rat sarcoma viral oncogene homolog (HRAS) ; Chromosome 11p15.5; Dominant, de novo or Recessive

Congenital Myopathy with Caps 57

Genetics: General
  Mutations in some of same genes
    that produce Rod myopathies & CFTD
  1: γ-Tropomyosin 3 (TPM3): 1q22
  2: β-Tropomyosin 2 (TPM2): 9p13
  α-Actin 1, Skeletal muscle (ACTA1): 1q42
  Nebulin: 2q23
  Myopalladin: 10q21
Muscle Pathology

Also see
  Myofibrillar (Desmin storage) myopathy
  Cap pathology

Cap Myopathy 2 (CAPM2) : TPM2 mutations
  β-Tropomyosin 2 (TPM2) ; Chromosome 9p13.3; Dominant

Myofibrillar Myopathy 8 (MFM8): Early-Onset with Internal Nuclei, & Myofibrillar Disorganization 133

  Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 (PYROXD1; PYRD1) ; Chromosome 12p12.1; Recessive

X-linked Mental retardation syndrome (Cabezas) 14

  Cullin 4B (CUL4B) ; Chromosome Xq24; Recessive

Congenital Weakness with Diarrhea & Deafness


Congenital Fiber Type Size Disproportion (Type I fibers small) 51

Differential diagnosis
CFTD 1: α-Actin: 1q42; Dominant
CFTD 2: Xq13; Recessive
CFTD 3: SEPN1: 1p36; Recessive
CFTD 4: TPM3; 1q21; Dominant
CFTD 5: TPM2; 9p13; Dominant
CFTD: MYL2; 12q24; Recessive
CFTD: HACD1 (PTPLA); 10p12; Recessive
CFTD: MYH7; 14q11; Dominant
CFTD: MYL2; 12q24; Recessive
  SCN4A: 17q23; Recessive
  Titin: 2q31; Recessive

Multisystem Selenoprotein Deficiency 83

  Selenocysteine insertion sequence–binding protein 2 (SECISBP2; SBP2) ; Chromosome 9q22.2; Recessive

Ehlers-Danlos, Variant with progressive Kyphoscoliosis, Myopathy & Hearing loss (EDSKMH) 90

  Peptidyl-prolyl cis-trans isomerase 14 (FK506-binding protein 14; FKBP14) ; Chromosome 7p14.3; Recessive

Shwachman–Diamond Syndrome, Neonatal with Myopathy 127

  SBDS gene ; Chromosome 7q11.21; Recessive

Congenital Myopathy with Type I fiber predominance 134

  Leucine zipper- & Sterile alpha motif-containing kinase (ZAK) ; Chromosome 2q31.1; Recessive

Congenital Myopathy with Smallness or Absence of Type 2 Muscle Fibers (MYOFTA) 146

  Myosin, light polypeptide 1, alkali, skeletal, fast (MYL1) ; Chromosome 2q34; Recessive
Return to Myopathy & NMJ Index
Return to Neuromuscular Home Page

1. Pediatric Neurology 1996;15:150-152
2. Muscle & Nerve 1998;21:40-47, Am J Human Genet 2011; Online June
3. J Neurol Sci 1995:128:58-65
4. Neuromuscular Disorders 1998;8:162-168
5. Neuromuscular Disorders 1997;7:160-168
6. Neuromuscular Disorders 1999;9:580-586
7. Am J Hum Genet 2000 February 66:
8. Ann Neurol 2000;47:152-161
9. Ann Neurol 2000;47:531-536
10. Human Mutation 2000;15:393-409, Hum Mutat 2002;19:114-121, Muscle Nerve 2017 Nov 17
11. Human Mutation 2000;15:410-417
12. Neuromuscular Disorders 2000;10:264-273, 2004;14:754–766
13. Am J Hum Genet 2000;67:000
14. J Med Genet 2000;37:663-668
15. Neuromuscular Disorders 2000;10:541-547
16. Neuromuscular Disorders 2000;10:548-552; 2003;13:January online
17. Hum Mol Genet 2000;9:3083-3090
18. Muscle Nerve 2001;24:138-143, Neuromuscular Disorders 2014; Online June
19. Neurology 2001;56:1059-1069
20. Neuropediatrics 2001;32:107-109
21. PNAS 2001;98:7516-7521, Ann Neurol 2001;50, Am J Hum Genet 2002;70:1446-1458
22. Ann Neurol 2001;50:, Trends Mol Med 2001;7:362-368
23. J Neuropath Exp Neurol 1982;41;298-314
24. Neuropath Appl Neurobiol 1994;20;232-237
25. Neuromuscular Disorders 2001;11:538-541
26. Neuromuscular Disorders 2001;11:635
27. Neuromuscular Disorders 2002;12:13-18, Brain 2003;126 Online June, Am J Human Genet 2010; Online November
28. Br J Plast Surg 2001;54:132-136
29. Developmental Cell 2001;1:717–724
30. Ann Neurol 2002;51:750-759
31. Neuromuscular Disorders 2002;12:392–398
32. J Neuropath Exp Neurol 2002;61:520-530
33. Ann Neurol 2000;48:745-757
34. Neuromusc Disord 2002;12:623-630
35. Neurology 2002;59:613-617
36. J Neurol Sci 2002; Online October, J Neuropathol Exp Neurol 2007;66:57-65
37. PNAS 2002;99:15060-15065
38. Neuromuscular Disorders 2002;12:November online
39. Neurology 2003;60:1363–1365
40. Human Molecular Genetics 2003;12:1045–1053
41. Am J Hum Genet 2003; Online July, Human Molecular Genetics 2005;14:279–293
42. Acta Neuropathol 2003;106:137–142
43. Human Molecular Genetics 2003; Online September
44. Ann Neurol 2003;54:494–500
45. Brain 2003;126:2341-2349
46. Nature Genet 2003;Online November
47. Nature Medicine 2004;Online June
48. Curr Opin Neurol 2004;17:205–209
49. Neurology 2004;62:1484–1490
50. Hum Genet 2003;113:297–306, PLoS One 2012;7:e46408
51. J Neuropath Exp Neurol 2003;62:977–989, Ann Neurol 2004; Online October
52. Neuromuscular Disorders 2004;14:785–790
53. Neuromuscular Disorders 2004;14:779–784
54. Human Molecular Genetics 2005;14:295–305
55. Human Genetics 2005; Online May, Neuromuscular Disorders 2012; Online August
56. Neurology 2005;64:1638–1640, Neurology 2019 Sep 20
57. J Neurol Sci 2002;201:27–31, Neuromuscular Disorders 2007; Online April
58. J Med Genet 2005;42;408-415
59. Neurology 2005;65: Online September 7, Neurology 2014 Nov 5, J Neurol 2018;265:542-551
60. Nature Genetics 2005; Online October 16
61. Ann Neurol 2005; Online Dec
62. Neuromuscular Disorders 2006; Online Jan
63. Brain 2006; On-line June
64. Neuromuscular Disorders 2006;16:S62
65. Am J Hum Genet 2006; Online October
66. Ann Neurol 2006; Online December 22
67. Neuromuscul Disord 2007 May 28
68. Nature Genetics 2007; Online August
69. Neurology 2008;70:114–122, Pediatr Neurol 2014; Online Apr
70. Ann Neurol 2008; Online Feb
71. Ann Neurol 2007;62:666-670, Neuromuscular Disorders 2013; Online Feb
72. Science 2008 Jul 24
73. Human Mut 2008; Online Dec
74. Neuromuscular Disorders 2009; Online January
75. Brain 2009 Jan 29
76. Prenat Diagn 2009 Mar 5
77. Muscle Nerve 2009;38:1070-1073
78. Semin Respir Crit Care Med 2009;30:315–320
79. Biochemical Biophysical Research Communications 2007;363:1033–1037
80. Neurology 2009;73:1159-1161
81. Pflugers Arch 2010; Online Feb
82. Neuromuscular Disorders 2010; Online Mar
83. Journal of Clinical Investigation 2010; Online November
84. Am J Human Genet 2010; Online November
85. Neuromuscular Disorders 2011; Online April
86. Neuromuscular Disorders 2011;21:379–386, Neuromuscular Disorders 2011;21:387–395
87. Nature Genet 2011; Online November, Neurogenetics 2012; Feb 28
88. Neurology 2011;76:451-455
89. Semin Pediatr Neurol 2011;18:250-256
90. Am J Human Genet 2012; Online Jan
91. Nature Genetics 2012; Online April A, B
92. Acta Neuropathol 2012 Jul 3
93. Am J Human Genet 2012; Online July
94. Neuromuscul Disord 2012 Jul 9
95. Neuromuscul Disord 2012 Jul 23
96. American Journal of Human Genetics 2012;91;541–547
97. Eur J Hum Genet 2012 Oct 24
98. Neuromuscular Disorders 2012; Online November
99. Brain 2013; Online Jan
100. Am J Med Genet 2012;158A:772-778
101. J Neurol 2013; Online Jan
102. Brain 2013;136:282-293
103. Hum Mol Genet 2012;21:5484-5499
104. American Journal of Human Genetics 2013; Online Feb
105. Science 2013: Mar 21
106. Hum Mol Genet 2013;22:1746-1754
107. Neuromuscul Disord. 2013;23:540-548
108. Am J Human Genet 2013;93:29–41, Brain 2015; Online Feb
109. Hum Molec Genet 2013; Online August
110. Neurology 2013;Aug 23
111. Am J Human Genet 2103; Online Nov
112. Neuromuscular Disorders 2104; Online May
113. American J Human Genetics 2014; Online July
114. Pediatric Neurology 2014;51:192-197
115. J Clin Invest 2014;124: 4693-4708, Neurology 2018;91:e1690-e1694
116. Brain 2014; Online Sep
117. Amer J Human Genet 2014; Online Dec
118. Neuromuscular Disorders 2015; Online Feb
119. J Neurol 2015: May
120. JAMA Neurol 2015 May 4
121. Neuromuscul Disord 2015;25:488-492
122. Brain 2015; Online June
123. Ann Neurol 2015 Online September
124. Brain 2015; Online December, Neuromuscular Disorders 2017; Online Feb
125. J Neurol 2016 Jan 11
126. Eur J Hum Genet 2016 Jan 27
127. Am J Med Genet A 2016 Feb 11
128. Eur J Hum Genet 2015;23:883-886
129. Neurol Genet 2015;1:e33
130. Am J Human Genet 2016; Online May
131. Hum Mol Genet 2015;24:6146-6159
132. Neuromuscul Disord 2016 May
133. Am J Hum Genet 2016 Sep 28
134. Brain 2016; Online November
135. Muscle Nerve 2016;54:806-808
136. Am J Human Genet 2016; Online Dec
137. Am J Human Genet 2017; Online Feb
138. Neurology 2017 Feb 15
139. Ann Neurol 2017; Online Feb
140. Neuromuscul Disord 2017 Feb
141. Hum Mol Genet 2017 Apr 13
142. Neuromuscular Disorders 2017; Online May
143. Nat Commun 2017 Jul 6
144. Eur J Neurol 2018 Mar 2
145. Am J Human Genet 2018; Online June
146. Hum Mol Genet 2018 Sep 12
147. J Neurol 2018 Dec
148. Acta Neuropathol Commun 2019;7(1):3
149. Neuromuscular Disord 2019; March
150. Neuromuscul Disord 2017;27:742-746
151. Acta Neuropathol 2019;137:501-519, Ann Neurol 2019 Mar 22
152. Handb Clin Neurol 2019;162:435-448
153. Dis Model Mech 2019;12(8)
154. Acta Neuropathologica 2019;138:477–495
155. Nat Commun 2019;10:797