Late adult‐onset of X‐linked myopathy with excessive autophagy

Cameron D Crockett; Alessandra Ruggieri; Meena Gujrati; Christopher M Zallek; Nivetha Ramachandran; Berge A Minassian; Steven A Moore

doi:10.1002/mus.24197

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Late adult‐onset of X‐linked myopathy with excessive autophagy

Journal article

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Late adult‐onset of X‐linked myopathy with excessive autophagy

Cameron D Crockett, Alessandra Ruggieri, Meena Gujrati, Christopher M Zallek, Nivetha Ramachandran, Berge A Minassian and Steven A Moore

Muscle & nerve, Vol.50(1), pp.138-144

07/2014

DOI: 10.1002/mus.24197

PMCID: PMC4589296

PMID: 24488655

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https://www.ncbi.nlm.nih.gov/pmc/articles/4589296View

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Abstract

ABSTRACT Introduction: X‐linked myopathy with excessive autophagy (XMEA) is characterized by autophagic vacuoles with sarcolemmal features. Mutations in VMA21 result in insufficient lysosome acidification, causing progressive proximal weakness with onset before age 20 years and loss of ambulation by middle age. Methods: We describe a patient with onset of slowly progressive proximal weakness of the lower limbs after age 50, who maintains ambulation with the assistance of a cane at age 71. Results: Muscle biopsy at age 66 showed complex muscle fiber splitting, internalized capillaries, and vacuolar changes characteristic of autophagic vacuolar myopathy. Vacuoles stained positive for sarcolemmal proteins, LAMP2, and complement C5b‐9. Ultrastructural evaluation further revealed basal lamina reduplication and extensive autophagosome extrusion. Sanger sequencing identified a known pathologic splice site mutation in VMA21 (c.164–7T>G). Conclusions: This case expands the clinical phenotype of XMEA and suggests VMA21 sequencing be considered in evaluating men with LAMP2‐positive autophagic vacuolar myopathy. Muscle Nerve 50: 138–144, 2014

autophagic vacuolar myopathy

autophagic vacuoles with sarcolemmal features

progressive proximal muscle weakness

VMA21

X‐linked myopathy with excessive autophagy

Details

Title: Subtitle: Late adult‐onset of X‐linked myopathy with excessive autophagy
Creators: Cameron D Crockett - University of Iowa
Alessandra Ruggieri - University of Toronto
Meena Gujrati - University of Illinois Chicago
Christopher M Zallek - Illinois Neurological Institute
Nivetha Ramachandran - University of Toronto
Berge A Minassian - University of Toronto
Steven A Moore - University of Iowa
Resource Type: Journal article
Publication Details: Muscle & nerve, Vol.50(1), pp.138-144
DOI: 10.1002/mus.24197
PMID: 24488655
PMCID: PMC4589296
NLM abbreviation: Muscle Nerve
ISSN: 0148-639X
eISSN: 1097-4598
Number of pages: 7
Grant note: DOI: 10.13039/100000002, name: National Institutes of Health, award: NS053672
Language: English
Date published: 07/2014
Academic Unit: Pathology
Record Identifier: 9984186537902771

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