LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

In this issue of Neurology® Genetics, Endo et al.(1) report 3 cases of limb-girdle muscular dystrophy (LGMD) phenotype with mental retardation or hyperCKemia found by next-generation sequencing (NGS) to have a variant in the POMGNT2 gene, which has so far been recognized only as causing congenital m...

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Bibliographic Details
Published inNeurology. Genetics Vol. 1; no. 4; p. e39
Main Author Angelini, Corrado I
Format Journal Article
LanguageEnglish
Published United States Wolters Kluwer 01.12.2015
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Summary:In this issue of Neurology® Genetics, Endo et al.(1) report 3 cases of limb-girdle muscular dystrophy (LGMD) phenotype with mental retardation or hyperCKemia found by next-generation sequencing (NGS) to have a variant in the POMGNT2 gene, which has so far been recognized only as causing congenital muscular dystrophy (CMD).
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Funding information and disclosures are provided at the end of the editorial. Go to Neurology.org/ng for full disclosure forms. The Article Processing Charge for this editorial was waived at the discretion of the Editor.
ISSN:2376-7839
2376-7839
DOI:10.1212/NXG.0000000000000039