Antibody & Biopsy
Patient Information


Absent muscles
Actin aggregate: ACTA1; 1q42
Autophagy, high: VMA21; Xq28 
Broad A band
Central core: RYR1; 19q13
Centronuclear (Myotubular)
CMH4: MYBPC3; 11p11
  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
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
Integrin α-7: 12q13
Joint Hyperlaxity: 3p23
Marinesco-Sjögren: SIL1; 5q31
MDCDC: TRIP4; 15q22
Merosin (laminin α2-chain)
  Deficient (MDC1A): 6q22
  Normal: "Pure" form
Mitochondrial structure: CHKB; 22q13
Multisystem disorder: PIGY; 4q22
Muscle-Eye-Brain Disorders
Muscle hypertrophy
  Mental retardation
  Respiratory failure (MDC1B): 1q42
  Muscles large (MDC1C): FKRP; 19q13
  Retardation (MDC1D): LARGE; 22q12
Myasthenic syndrome: DOK7; 4p16
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
Extraocular muscles
  Congenital fibrosis
  Duane's syndrome
  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

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
      Central core diseases
        Minicores, Transient
        Fetal akinesia
        Mild phenotype & Recessive inheritance
        Samaritan myopathy
      Myopathy with Myofibril Δ: PYROXD1
      Nemaline rods + External ophthalmoplegia
      Congenital myopathy
        Centronuclear myopathy
        Fatigable weakness
        Focal lost striations
  Core syndromes
  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 (CFN2); 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
    Cap myopathy
    Myopathy with Myofibril Δ: PYROXD1
    Pyruvate carboxylase deficiency
    Rod myopathy, mild
    Zebra body

Sporadic disorders with rods
  Infant onset myopathy
  Adult onset myopathy
  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

NEM3 Rod myopathy
  α-Actin (ACTA1; Skeletal muscle)
; Chromosome 1q42.13; Dominant or Sporadic, or 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: Nemaline Rod myopathy 136
  Myopalladin (MYPN) ; Chromosome 10q21.3; 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
    CNM: RYR1: 19q13
    CNM: TTN; 2q31
    CNM + DCM: SPEG; 2q35
    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 ; 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


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
  Congenital fibrosis
  Duane retraction syndromes (DRS)
  Möbius syndrome (MBS)
  + Scoliosis (HGPPS): ROBO3; 11q24
  CCDD: ECEL1; 2q37
  CCDD: COLA25A1; 4q25
  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

Congenital myopathy with excess of thin filaments 5

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

Carey-Fineman-Ziter Syndrome

  Autosomal 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

General: Mutations in same molecules that produce rod myopathies

  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: 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
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