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LIMB-GIRDLE MUSCULAR DYSTROPHY (LGMD) SYNDROMES 2

Limb girdle dystrophies: Dominant
  1A: Myotilin; 5q31; Dysarthria
  1B: Lamin A/C; 1q21; + Cardiac
  1C: Caveolin-3; 3p25; Child onset
  1D: DNAJB6; 7q36
  1E: Desmin; 2q35
  1F: TNPO3; 7q32
  1G: HNRPDL; 4q21
  1H: 3p23
  Ankle contractures & High CK
  Bethlem 1
    COL6A1: 21q22
    COL6A2: 21q22
    COL6A3: 2q37
  Bethlem 2: COL12A1; 6q13
  Central core: RYR1; 19q13
  Cytoplasmic body: 2q24; 2q21 +...
  Distal myopathies
    MPD2: MATR3; 5q31
  Emery-Dreifuss
    Lamin A/C; 1q21
    SYNE1; 6q25
    SYNE2; 14q23
  Facioscapulohumeral
    1A: DUX4; 4q35
    1B: DUX4; 10qter
    2: SMCHD1; 18p11
  Myofibrillar (Desmin storage)
    MFM1: Desmin; 2q35; AD or AR
    MFM2: CRYAB; 11q22
    MFM3 (LGMD 1A): Myotilin; 5q31
    MFM4: ZASP; 10q23
    MFM5: Filamin C; 7q32
    MFM6: BAG3; 10q25
    Congenital: SEPN1; 1p36
    Other
  Myosin storage: MYH7; 14q11
  Myotonic (DM1): DMPK; 19q13
  Myotonic (DM2): ZNF9; 3q21
  Oculopharyngeal: PABP2; 14q11
Limb girdle dystrophies: Recessive
  2A: Calpain-3 ;15q15
  2B: Dysferlin; 2p13
  2C: γ-Sarcoglycan; 13q12
  2D: α-Sarcoglycan; 17q21
  2E: β-Sarcoglycan; 4q12
  2F: δ-Sarcoglycan; 5q33
  2G: Telethonin; 17q12
  2H: TRIM32; 9q33
  2I (MDDGC5): FKRP; 19q13
  2J: Titin; 2q24
  2K (MDDGC1): POMT1; 9q34
  2L: ANO5; 11p14
  2M (MDDGC4): Fukutin; 9q31
  2N (MDDGC2): POMT2; 14q24
  2O (MDDGC3): POMGnT1; 1p32
  2P (MDDGC9): DAG1; 3p21
  2Q: Plectin 1f; 8q24
  2R: Desmin; 2q35
  2S: TRAPPC11; 4q35
  2T: GMPPB; 3p21
  2U (Cerebellum small): ISPD; 7p21
  2V: GAA; 17q25
  2W: LIMS2; 2q14
  2X: POPDC1; 6q21
  2Y: TOR1AIP1; 1q25
  2Z: POGLUT1; 3q13
  MDDGC12: POMK; 8p11
  Caveolin-3
  Merosin (Laminin α2)
    Absent: 6q22
    Reduced
    Abnormal: LGMD 2I
  Myosclerosis: COL6A2; 21q22.3
  Myopathy +
    Cardiomyopathy
      Arrhythmia: POPDC1; 6q21
      Dilated: DPM3; 1q12
      Triangle tongue (2W): LIMS2; 2q14
    CNS: POMGNT2; 3p22
    Contractures: TOR1AIP1; 1q25
    Epilepsy: DPM2; 9q34
    Infant stiffness: CRYAB; 11q22
    Lipodystrophy: PTRF; 17q21
    MR & Eye (2T): GMPPB; 3p21
    Ophthalmoplegia: MYH2; 17p13

Limb girdle dystrophies: X-linked
  Barth: G4.5 (Tafazzins); Xp28
  Becker: Dystrophin; Xp21
  Duchenne: Dystrophin; Xp21
  Emery-Dreifuss
    Emerin; Xq28
    FHL1: Xq26
  Manifesting carriers
    Dystrophinopathy
    Myotubularin
  McLeod Syndrome: XK; Xp21.1;
  Vacuolar
    Danon's disease: LAMP-2; Xq24
    Excess Autophagy: VMA21; Xq28
    MR & Cardiac: LAMP-2; Xq24

LGMD: General features

Muscle proteins
  Connective tissue
  Dystrophin & associated proteins
  Intermediate filaments
  Neuromuscular junction
  Nuclear envelope
  Structural & Contractile

alpha-Sarcoglycan: LGMD 2D gamma-Sarcoglycan: LGMD 2C delta-Sarcoglycan: LGMD 2F beta-Sarcoglycan: LGMD 2E Dystrophin: Duchenne & Becker MD Laminin-alpha2: Congenital muscular dystrophy Integrin, alpha7: Congenital muscular dystrophy Connective tissue Agrin alpha-Dystroglycan beta-Dystroglycan alpha-Dystrobrevin Syntrophins Sarcospan Filamin 2 Filamin 2 Integrin, beta1 Dystrophy-associated proteins DAG complex +
Other inherited myopathy syndromes
  α-Dystroglycan disorders (MDDGC)
  APECED: AIRE; 21q22; Recessive
  Autophagy
    Excessive: VMA21; Xq28
    Multisystem: CLN3; 16p11; Recessive
    Other
  Barnes myopathy: Dominant
  Cardiac + Myopathy
    Cardiomyopathy-associated
    Cardiomyopathy (? LGMD1B)
    LGMD 1E: Desmin; 2q35; Dominant
  Congenital
    Myopathies: Late-onset
    Muscular dystrophies (MDDG)
  Cytoplasmic body myopathies
  Distal myopathies
  Ehlers-Danlos: Recessive
    TNXB; 6p21
    FKBP14; 7p14
  Familial myasthenia gravis
  FSH dystrophy: Dominant
    FSHD1: D4Z4 deletion; 4q35
    FSHD2: SMCHD1; 18p11 & 4q35
  Glycogenoses
  Glycosylation
  Hyaline body: MYH7; 14q11; Dominant
  Inclusion Body (IBM)
    Distal + Resp: TTN; 2q31; Dominant
    IBM1: Desmin; 2q35; Dominant
    IBM2: GNE; 9p12; Recessive
    IBM3: MYH2; 17p13; Dominant
    IBM4: 7q22; Dominant
    LGMD 1D: DNAJB6; 7q36; Dominant
    IBM + Paget
    HMERF: Titin; 2q24; Dominant
  KFS4: MYO18B; 22q12; Recessive
  Lipid
  Mitochondrial
  Myotonic dystrophy
  Ophthalmoplegia: MYH2; 17p13; Recessive
  Other dystrophies
  Protein surplus: CASQ1; 1q23; Dominant
  Reducing body
  Respiratory failure
  Scapuloperoneal syndromes
  Skeletal + Myopathy: Dominant
    Bone fragility: MTAP; 9p21
    Paget (VCP; HNRNPA2B1; HNRNPA1)
    Dysplasia
      Diaphyseal: TGFB1; 19q13
      Epiphyseal (COL9A3; COL9A2; COMP)
  Spheroid body (Myotilin)
  Strongman: DCST2; 1q22; Dominant
  Tubular aggregates
  Tubular arrays



LGMD: General features

Inheritance
Myopathy: General features
Presenting features
Prevalence
Proteins: Subcellular location
Sarcoglycans
Weakness

From Bramwell:
Atlas of Clinical Medicine


MD: Toe walking


LGMD 1: Dominant inheritance


LGMD 1A (Myofibrillar myopathy 3 (MFM3) )
  Myotilin (Titin immunoglobulin domain protein (TTID); MYOT) 19; Chromosome 5q31.2; Dominant or Sporadic

LGMD 1B 17
  Lamin A/C ; Chromosome 1q21.2; Dominant
LGMD 1C 27
  Caveolin-3 ; Chromosome 3p25.3; Dominant, Also Recessive

Caveolin protein
LGMD 1C
  Allelic disorders
  Clinical
  Genetics
  Laboratory
  Mouse models
Caveolin-3: Located on
muscle fiber sarcolemma

LGMD 1D 82
  DNAJ/HSP40 Homolog, subfamily B, Member 6 (DNAJB6) ; Chromosome 7q36.3; Dominant
LGMD 1E: Familial Dilated Cardiomyopathy with Conduction Defect & Muscular Dystrophy 81
  Desmin; Chromosome 2q35; Dominant
LGMD 1F 35
  Transportin 3 (TNPO3) ; Chromosome 7q32.1; Dominant
LGMD 1G
  Heterogeneous nuclear ribonucleoprotein D-like protein (HNRNPDL; HNRPDL) ; Chromosome 4q21.22; Dominant
LGMD 1H 77
  Chromosome 3p25.1–p23; Dominant

LGMD2: Recessive Inheritance


LGMD 2A
  Calpain-3 (p94 protein) ; Chromosome 15q15.1; Recessive or Dominant

Genetics
Calpain-3 protein
Clinical
Laboratory

From: C Angelini MD



LGMD 2B
  Dysferlin ; Chromosome 2p13.2; Recessive

Gene
Protein
Clinical
Laboratory
Pathology
Variant syndromes
Mouse models

From: C Angelini

LGMD 2C; Severe Childhood Autosomal Recessive (SCARMD)
  γ Sarcoglycan ; Chromosome 13q12.12; Recessive
LGMD 2D
  α-Sarcoglycan (Adhalin; SGCA) ; Chromosome 17q21.33; Recessive

LGMD 2E
  β-Sarcoglycan ; Chromosome 4q12; Recessive
LGMD 2F
  δ-Sarcoglycan ; Chromosome 5q33.3; Recessive
LGMD 2G
  Telethonin (Titin-Cap; TCAP) ; Chromosome 17q12; Recessive
LGMD 2H: Manitoba Hutterite Dystrophy
  Tripartite-motif containing gene 32 (TRIM32) ; Chromosome 9q33.1; Recessive Sarcotubular myopathy 46
  Tripartite-motif containing gene 32 (TRIM32) ; Chromosome 9q31-q33; Recessive
LGMD 2I (MDDGC5) 18
  Fukutin-related protein gene (FKRP) ; Chromosome 19q13.32; Recessive Myopathy with abnormal merosin (Laminin-2) 4
    Fukutin-related protein gene (FKRP) ; Chromosome 19q13.3; Recessive
LGMD 2J
    Titin ; Chromosome 2q31.2; Recessive
LGMD 2K (MDDGC1) : with Mental retardation and Reduced α-dystroglycan 45
    POMT1 ; Chromosome 9q34.13; Recessive
LGMD 2L 67
    Anoctamin 5 (ANO5, TMEM16E, GDD1) ; Chromosome 11p14.3; Recessive
LGMD 2M (MDDGC4) 59
    Fukutin (FCMD; FKTN) ; Chromosome 9q31.2; Recessive
Myopathy, Early-onset with Ophthalmoplegia 78
    Myosin, heavy chain 2, skeletal muscle, adult (MYH2) ; Chromosome 17p13.1; Recessive
Early-onset Myopathy with External ophthalmoplegia 78
  Myosin, heavy chain 2, skeletal muscle, adult (MYH2) ; Chromosome 17p13.1; Recessive
Myosclerosis 69
    Collagen, type VI, subunit α2 (COL6A2) ; Chromosome 21q22.3; Recessive
Limb Girdle Dystrophy with Mental Retardation (MDDGC9; LGMD 2P) 79
  Dystrophin-associated glycoprotein 1 (Dystroglycan 1; DAG1) ; Chromosome 3p21.31; Recessive

LGMD 2S: Limb Girdle Dystrophy with Movement Disorder & Intellectual Disability 89
  Transport (Trafficking) protein particle complex, Subunit 11 (TRAPPC11) ; Chromosome 4q35.1; Recessive

Other Dominant Myopathies


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

Bethlem myopathy 2 (BTHLM2) 90
  Collagen, type XII, subunit α-1 (COL12A1) ; Chromosome 6q13-q14; Dominant

Multiple epiphyseal dysplasia with mild myopathy (EDM3) 13
  Collagen, type IX, subunit α-3 (COL9A3) ; Chromosome 20q13.3; Dominant
  Collagen, type IX, subunit α-2 (COL9A2) ; Chromosome 1p34.2; Dominant
  Cartilage oligomeric matrix protein (COMP) ; Chromosome 19p13.1; Dominant

Dominant Myopathy with Bone Fragility 51
  Methylthioadenosine phosphorylase (MTAP) ; Chromosome 9p21.3; Dominant
Hereditary Inclusion Body Myopathy 4 (HIBM4) 83
  Chromosome 7q22.1-31.1; Dominant
Dominant Myopathy with Cardiomyopathy 1
  Autosomal dominant
Dominant myopathy with Ankle contractures & High CK 10
  Autosomal Dominant
Barnes's Myopathy

Other Recessive Myopathies



Familial Limb-Girdle Myasthenia
    Dok-7 (C4ORF25) ; Chromosome 4; Recessive



Myopathy with Dilated Cardiomyopathy 75
  Dolichyl-phosphate mannosyltransferase 3 (DPM3) ; Chromosome 1q22; Recessive

LGMD 2W: Myopathy with Cardiomyopathy & Triangular Tongue 91
  Lim and senescent cell antigen-like domains 2 (LIMS2; PINCH2) ; Chromosome 2q14.3; Recessive

LGMD 2X: Myopathy with Arrhythmias 103
  Popeye domain–containing 1 gene (POPDC1; BVES) ; Chromosome 6q21; Recessive

Myopathy with Contractures (LGMD 2Y)
  Torsin A-interacting protein 1 (TOR1AIP1; LAP1B) ; Chromosome 1q25.2; Recessive

Myopathy with Satellite cell loss (LGMD 2Z) 105
  Protein O-glucosyltransferase 1 (POGLUT1) ; Chromosome 3q13.33; Recessive

Congenital disorder of glycosylation, Type Iu (CDG1U; DPM2-CDG): Myopathy with Epilepsy & Microcephaly
  Dolichyl-phosphate mannosyltransferase 2 (DPM2) ; Chromosome 9q34.13; Recessive

Myopathy with Lipodystrophy (Congenital generalized lipodystrophy, Type 4; CGL4) 76
  Polymerase I and transcript release factor (PTRF; Cavin-1; FKSG13) ; Chromosome 17q21.31; Recessive

Ehlers-Danlos with Myopathy 88
  Tenascin-XB (TNXB) ; Chromosome 6p21.33; Recessive

LGMD 4
    Autosomal Recessive

Metabolic myopathies

Infantile autophagic vacuolar myopathy 56
    Autosomal Recessive

Childhood autophagic vacuolar myopathy 57
    Autosomal Recessive or X-linked carrier

Adult-onset autophagic vacuolar myopathy with multiorgan involvement 58
    Sporadic

Cardiomyopathy, Retinal degeneration & Epilepsy 93
    CLN3 ; Chromosome 16p11.2; Recessive

X-linked myopathies


X-linked Myopathy with Excessive Autophagy (MEAX; XMEA) 5, 16
  VMA21 vacuolar H+-ATPase homolog (VMA21; ATP6V0E1; LOC203547) ; Chromosome Xq28; Recessive

X-linked Vacuolar Cardiomyopathy and Myopathy (Danon's disease)
  Lysosome-associated membrane protein 2 (LAMP-2) ; Chromosome Xq24; Dominant, more severe in males

Myofibrillar (Desmin -storage) Myopathies 3,11

Clinical features
Pathological features
Hereditary types
  Congenital
    Cap
      TPM2: 9p13
      TPM3: 1q22
      ACTA1: 1q42
    MD: SEPN1; 1p36
    MD + JEB: Plectin; 8q24
    Myopathy: CCDC78; 16p13
  MFM1 (LGMD 1E): Desmin; 2q35
  MFM2: αB-crystallin; 11q22
  MFM3 (LGMD 1A): Myotilin; 5q31
  MFM4: ZASP; 10q23
  MFM5: Filamin C; 7q32
  MFM6: BAG3; 10q25
  MFM7: KY; 3q22
  MFM: ACTA1; 1q42
  Childhood
  Myopathy & Respiratory Δ
    Type 1: Titin; 2q31
    Type 2: 2q21
  Restrictive cardiomyopathy
  Scapuloperoneal MD: FHL-1; Xq26
  Polyglugosan body: RBCK1; 20p13
Desmin knock-out mouse

Also see
  Contractures + Weakness: KY; 3q22
  Inclusion body myositis
  Intermediate filament disorders

 

Desmin aggregates



Myofibrillar myopathies: General


Myofibrillar myopathies: Specific syndromes



Myofibrillar myopathy 1 (MFM1)
  Desmin ; Chromosome 2q35; Dominant or Recessive

Myofibrillar myopathy 2 (MFM2) (Type 1) 39
  αB-crystallin (CRYAB; HSPB5) ; Chromosome 11q23.1; Dominant or Recessive

Myofibrillar myopathy 4 (MFM4) 44
  ZASP (Lim domain-binding 3 (LDB3)) ; Chromosome 10q23.2; Dominant Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARVD7) 14
  Desmin (DES) ; Chromosome 2q35; Dominant


Desmin-associated restrictive cardiomyopathy 28
  Autosomal Dominant

Cardioneuromyopathy with Hyaline masses and Nemaline rods
  Autosomal Recessive

Desmin myopathy (Type 2)
  Autosomal Dominant

Congenital muscular dystrophy with Desmin inclusions
  Selenoprotein N, 1 (SEPN1) ; Chromosome 1p36-p35; Recessive

Myofibrillar myopathy 5 (MFM5) 47
  Filamin C (Filamin 2; FLNC) ; Chromosome 7q32.1; Dominant

Myofibrillar myopathy 6 (MFM6) 68
  BCL2-associated athanogene 3 (BAG3) ; Chromosome 10q25.2-q26.2; Dominant

Desmin disorders: Other

Intermediate filaments & Disorders 20

General features
Proteins & Mutations


CYTOPLASMIC BODY MYOPATHIES (Also see Distal myopathies)

Severe limb-girdle: ? Recessive
Mild limb-girdle: Dominant
Desmin myopathies
Myopathy + Respiratory weakness
  Type 1: Titin; 2q31; Dominant
  Type 2: 2q21; Dominant
Distal: Dominant
  Gowers-Laing: MYH7; 14q12
Plectin deficiency

Pathology
  Cytoplasmic bodies

Gomori trichrome

Phalloidin


MYOPATHIES WITH TUBULAR AGGREGATES

General features
Pathology
Syndromes
  Myopathy, Proximal
    TAM1: STIM1; 11p15; Dominant
    TAM2: ORAI1; 12q24; Dominant
  Myasthenic disorders
    Limb Girdle MG 1: GFPT1; 2p13; Recessive
    Limb Girdle MG 2: DPAGT1; 11q23; Recessive
    Slow channel MG: AChR mutations
  Rhabdomyolysis & Cramps
    PGAM2; 7p13; Recessive
  Neuromuscular, Other
    Gyrate atrophy: OAT; 10q26; Recessive
    Periodic paralysis
      Hypokalemic
      Andersen
  Occasional: Differential Diagnosis

Gomori trichrome

Tubular aggregates: General features Tubular aggregates: Proximal myopathy syndromes Tubular aggregates: Other Neuromuscular Disorders Tubular aggregates: Other occasional associations Tubular Aggregates: Mouse models
Myopathy with Tubular Arrays 48
Myopathy, vacuolar, with CASQ1 aggregates (VMCQA) 94
  Calsequestrin 1 (CASQ1) ; Chromosome 1q23.2; Dominant

Congenital Myopathy Syndromes: Late onset or progressive
Animal models with Myopathy
Also see: Other Dystrophies


Return to Myopathy & NMJ Index

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11/15/2016