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Article

Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.

Irish journal of medical science - 1 Dec 2024

Rahmuni Yasmina, Kadiri Youssef El, Lyahyai Jaber, Sefiani Abdelaziz, Ratbi Ilham

Abstract excerpt

BACKGROUND: Limb-girdle muscular dystrophies constitute a heterogeneous group of neuromuscular diseases, both clinically and genetically. Limb-girdle muscular dystrophy by alpha-sarcoglycan deficiency or LGMD R3 α-sarcoglycan-related is a subtype of the autosomal recessive sarcoglycanopathies caused by variants in the alpha-sarcoglycan gene (SGCA) at 17q21.33. It appears in childhood by progressive weakness of...

Topics

Humans
Sarcoglycanopathies
Male
Female
Morocco
Sarcoglycans
Child
High-Throughput Nucleotide Sequencing
Adult
Adolescent
Muscular Dystrophies, Limb-Girdle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Child, Preschool

Young Adult

Source

Identifiers

PMID: 39174842
DOI: 10.1007/s11845-024-03792-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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