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CONGENITAL MYOPATHIES & WEAKNESS

CONGENITAL WEAKNESS
Absent muscles
Actin aggregate: ACTA1; 1q42
Apoptosis
Arthrogryposis (Club foot)
Autophagy, high: VMA21; Xq28 
Bethlem myopathy
  COL6A1: 21q22
  COL6A2: 21q22
  COL6A3: 2q37
  COL12A1: 6q13
Broad A band
Cap: TPM2; 9p13
Carey-Fineman-Ziter
Central core: RYR1; 19q13
Centronuclear (Myotubular)
CMH4: MYBPC3; 11p11
Congenital MD
Cytoplasmic Body (Spheroid)
Danon: LAMP2; Xq24
Diarrhea & Deafness
DOPA-responsive dystonia
Ehlers-Danlos: FKBP14; 7p14
EMARDD: MEGF10; 5q23
Fiber Type Size Δ (CFTD)
Fingerprint body
Focal
FSH dys