December 8, 2011Muscle & Nerve

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation

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Population

A patient with congenital hypotonia, generalized weakness, elevated creatine kinase, and normal brain imaging

Design

Case_report

Authors

Discussion

May broaden genetic testing in atypical dystrophy cases; extends spectrum but requires validation in larger cohorts.

Population

A patient with congenital hypotonia, generalized weakness, elevated creatine kinase (CK), and normal brain imaging

Intervention

Histochemical analysis and genetic testing

Outcome

Identification of genetic mutation and histochemical findingssurrogate

Identifies a novel POMT1 mutation associated with a milder phenotype of congenital muscular dystrophy, expanding the known clinical spectrum.

Al-Zaidy et al. (2011) studied this question.

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