Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy

Neuromuscular Disorders

Volumn 25, Issue 3, 2015, Pages 207-211

  Ruggieri, A ^a,b   Ramachandran, N ^b   Wang, P ^b   Haan, E ^c,d   Kneebone, C ^e   Manavis, J ^f   Morandi, L ^a   Moroni, I ^a   Blumbergs, P ^f,g   Mora, M ^a   Minassian, B A ^b  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c SA Clinical Genetics Service   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e ROYAL ADELAIDE HOSPITAL   (Australia)

^f HANSON INSTITUTE   (Australia)

^g UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Autophagy; Lysosomal atPase; Microdeletions; VMA21; XMEA

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; ELECTROMYOGRAPHY; FEBRILE CONVULSION; GENE; GENE DELETION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LUNG DISEASE; MALE; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PREMATURE FETUS MEMBRANE RUPTURE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; VMA21 GENE; X CHROMOSOME LINKED DISORDER; X LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY; YOUNG ADULT; AUTOPHAGY; BRAIN; GENETICS; METABOLISM; MUSCLE DISEASE; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE;

MESSENGER RNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; VMA21 PROTEIN, HUMAN;

ADOLESCENT; AUTOPHAGY; BRAIN; GENETIC DISEASES, X-LINKED; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; RNA, MESSENGER; SEQUENCE DELETION; VACUOLAR PROTON-TRANSLOCATING ATPASES; YOUNG ADULT;

EID: 84924289690     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.11.014     Document Type: Article

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