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Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.

Neuromuscular disorders : NMD - 1 Nov 2013

Kurashige Takashi, Takahashi Tetsuya, Yamazaki Yu, Nagano Yoshito, Kondo Keita, Nakamura Takeshi, Yamawaki Takemori, Tsuburaya Rie, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichizo, Matsumoto Masayasu

Abstract excerpt

Here we report what is to our knowledge the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. The index case is a 52-year-old man with almost 40years of progressive proximal muscle weakness. High urinary β2 microglobulin, normal serum β2 microglobulin, autophagic vacuoles with sarcolemmal features, and a hemizygous c.164-7T>G mutation in the VMA21 gene were found. His two...

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Source

Identifiers

PMID: 23850239
DOI: 10.1016/j.nmd.2013.06.003

Genes

VMA21

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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