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Items: 2

1.

Calpain-3-related limb-girdle muscular dystrophy D4

MedGen UID:
993836
Concept ID:
CN312542
Disease or Syndrome
2.

Muscular dystrophy, limb-girdle, autosomal dominant 4

Autosomal dominant limb-girdle muscular dystrophy-4 (LGMDD4) is characterized by onset of proximal muscle weakness in young adulthood. Affected individuals often have gait difficulties; some may have upper limb involvement. Other features include variably increased serum creatine kinase, myalgia, and back pain. The severity and expressivity of the disorder is highly variable, even within families (summary by Vissing et al., 2016). For a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see 603511. [from OMIM]

MedGen UID:
1648316
Concept ID:
C4748295
Disease or Syndrome

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