Abstract
Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B). We report a series of 5 patients from the same family who all presented with dominant centronuclear myopathy, mild cognitive impairment, mild axonal peripheral nerve involvement, and the novel E368Q mutation in the DNM2 gene. This study suggests that the phenotypes of dynamin 2 related centronuclear myopathy and Charcot-Marie-Tooth disease overlap and that DNM2 mutations may alter cerebral function. This report extends the clinical knowledge of DNM2-centronuclear myopathy and shows that the role of DNM2 mutations in the central nervous system should be further studied.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Axons / metabolism
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Axons / pathology
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Cerebral Cortex / metabolism
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Cerebral Cortex / physiopathology
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Charcot-Marie-Tooth Disease / genetics*
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Charcot-Marie-Tooth Disease / metabolism
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Charcot-Marie-Tooth Disease / physiopathology
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Cognition Disorders / genetics
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Cognition Disorders / metabolism
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Cognition Disorders / physiopathology
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Comorbidity
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DNA Mutational Analysis
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Dynamin II / genetics*
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Male
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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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Mutation / genetics*
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Myopathies, Structural, Congenital / genetics*
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Myopathies, Structural, Congenital / metabolism
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Myopathies, Structural, Congenital / physiopathology
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Peripheral Nervous System Diseases / genetics
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Peripheral Nervous System Diseases / metabolism
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Peripheral Nervous System Diseases / physiopathology
Substances
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Genetic Markers
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Dynamin II