Neuromuscular

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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
    COL6A1: 21q22
    COL6A2: 21q22
    COL6A1: 2q37
    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; 17q1