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Items: 2

1.

Dilated cardiomyopathy 1L

Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200). [from OMIM]

MedGen UID:
335735
Concept ID:
C1847667
Disease or Syndrome
2.

Autosomal recessive limb-girdle muscular dystrophy type 2F

Autosomal recessive limb-girdle muscular dystrophy-6 (LGMDR6) is a very rare and severe neuromuscular disorder with onset in most patients in the first decade of life. Generalized muscle weakness affecting predominantly proximal and distal muscles of the limbs is progressive, and patients require walking aids or become wheelchair-bound. Some patients have cardiomyopathy or heart rhythm abnormalities, or require ventilatory support (Alonso-Perez et al., 2022). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). [from OMIM]

MedGen UID:
331308
Concept ID:
C1832525
Disease or Syndrome

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