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

被引：19

作者：

Kurashige, Takashi ^{[1
]}

Takahashi, Tetsuya ^{[1
]}

Yamazaki, Yu ^{[1
]}

Nagano, Yoshito ^{[1
]}

Kondo, Keita ^{[1
]}

Nakamura, Takeshi ^{[1
]}

Yamawaki, Takemori ^{[1
]}

Tsuburaya, Rie ^{[2
]}

Hayashi, Yukiko K. ^{[2
]}

Nonaka, Ikuya ^{[2
]}

Nishino, Ichizo ^{[2
]}

Matsumoto, Masayasu ^{[1
]}

机构：

[1] Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Clin Neurosci & Therapeut, Hiroshima 7348551, Japan

[2] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Kodaira, Tokyo 1870031, Japan

来源：

NEUROMUSCULAR DISORDERS | 2013年 / 23卷 / 11期

关键词：

X-linked myopathy with excessive autophagy (XMEA); Autophagic vacuole with sarcolemmal features (AVSF); beta; 2; Microglobulin; VMA21; VACUOLAR MYOPATHY; RENAL-FUNCTION; DANON-DISEASE;

D O I：

10.1016/j.nmd.2013.06.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 40 years of progressive proximal muscle weakness. High urinary beta 2 microglobulin, normal serum beta 2 microglobulin, autophagic vacuoles with sarcolemmal features, and a hemizygous c.164-7T>G mutation in the VMA21 gene were found. His two maternal uncles had similar clinicopathological findings. High urinary 02 microglobulin without obvious renal dysfunction might result from decreased urine acidification in the distal convoluted tubules caused by the VMA21 gene mutation. These findings might prove to be useful as a preliminary marker suggestive of X-linked myopathy with excessive autophagy. (C) 2013 The Authors. Published by Elsevier B.V. All rights reserved.

引用

页码：911 / 916

页数：6

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