Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Antigens, Protozoan / genetics
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Antigens, Surface / genetics
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Autophagy / genetics*
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Bone and Bones / abnormalities
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Child
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DNA Mutational Analysis
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Developmental Disabilities / diagnosis
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Developmental Disabilities / genetics
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Developmental Disabilities / physiopathology
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Genetic Diseases, X-Linked / diagnosis*
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / physiopathology
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Genetic Linkage
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Genetic Testing
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Haplotypes / genetics
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Humans
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Infant
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Infant, Newborn
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Lod Score
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Male
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Muscle Weakness / diagnosis
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Muscle Weakness / genetics
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Muscle Weakness / physiopathology
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology*
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Muscle, Skeletal / physiopathology
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Muscular Atrophy / diagnosis
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Muscular Atrophy / genetics
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Muscular Atrophy / physiopathology
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Muscular Diseases / congenital
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Muscular Diseases / diagnosis*
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Muscular Diseases / genetics*
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Pedigree
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Phenotype
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Sarcolemma / metabolism
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Sarcolemma / pathology
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Vacuoles / genetics
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Vacuoles / metabolism
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Vacuoles / pathology
Substances
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Antigens, Protozoan
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Antigens, Surface
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C5 phagosomal antigen, Paramecium multimicronucleatum