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Article

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.

Acta neurologica Belgica - 1 Feb 2021

Mohammadi Pouria, Daneshmand Mohammad Ali, Mahdieh Nejat, Ashrafi Mahmoud Reza, Heidari Morteza, Garshasbi Masoud

Abstract excerpt

Muscular dystrophy-dystroglycanopathies are autosomal recessive neurologic disorders, caused by homozygous or compound heterozygous mutations in the POMGNT1 gene-encoding protein O-mannose beta-1,2-N-acetylglucosaminyl transferase. This type of muscular dystrophy is characterized by early-onset muscle weakness, gait ataxia, microcephaly, and developmental delay.We performed whole-exome sequencing to detect the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33175337
DOI: 10.1007/s13760-020-01527-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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