A new congenital form of X-linked autophagic vacuolar myopathy.
In a new family with X-linked congenital autophagic vacuolar myopathy (AVM), seven affected boys presented with congenital hypotonia, dyspnea, and dysphagia with delayed motor milestones. Muscle pathology revealed autophagic vacuoles with sarcolemmal features, multilayered basal lamina with marked sarcolemmal deposition of C5-9 membrane attack complex and calcium, histologically indistinguishable from childhood-onset X-linked myopathy with excessive autophagy (XMEA). Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations.
Yan
C
C
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan.
Tanaka
M
M
Sugie
K
K
Nobutoki
T
T
Woo
M
M
Murase
N
N
Higuchi
Y
Y
Noguchi
S
S
Nonaka
I
I
Hayashi
Y K
YK
Nishino
I
I
D000953:Antigens, Protozoan / Q000235:genetics; D000954:Antigens, Surface / Q000235:genetics; D001343:Autophagy / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D008040:Genetic Linkage; D005820:Genetic Testing; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009135:Muscular Diseases / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012508:Sarcolemma / Q000378:metabolism / Q000473:pathology; D014617:Vacuoles / Q000235:genetics / Q000378:metabolism / Q000473:pathology
D000953:Antigens, Protozoan; D000954:Antigens, Surface; C118805:C5 phagosomal antigen, Paramecium multimicronucleatum