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GTR Home > Conditions/Phenotypes > Autosomal recessive limb-girdle muscular dystrophy type 2F

Autosomal recessive limb-girdle muscular dystrophy type 2F

Synonyms
Limb-girdle muscular dystrophy, type 2F; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6; Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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]

Available tests

68 tests are in the database for this condition.

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Clinical tests (68 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 35DAG, CMD1L, DAGD, LGMDR6, SG-delta, SGCDP, SGD, SGCD
    Summary: sarcoglycan delta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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