Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

Teerin Liewluck; Tracy L. Lovell; Anna V. Bite; Andrew G. Engel

doi:10.1016/j.nmd.2010.07.273

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

Teerin Liewluck, Tracy L. Lovell, Anna V. Bite, Andrew G. Engel

Neurology

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

Abstract

Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. DNM2-CMT but not DNM2-CNM patients were noted to have neutropenia. We here report a man with paravertebral muscles hypertrophy and mild neutropenia. His muscle biopsy was typical for CNM with additional "necklace" fibers. Sequencing of DNM2 revealed a known heterozygous c.1269C > T (p.Arg369Trp) mutation. Necklace fibers were considered as a pathological hallmark of late onset X-linked CNM due to mutations in MTM1 but have not been observed in DNM2-CNM. The findings broaden the features of DNM2-myopathy.

Original language	English (US)
Pages (from-to)	801-804
Number of pages	4
Journal	Neuromuscular Disorders
Volume	20
Issue number	12
DOIs	https://doi.org/10.1016/j.nmd.2010.07.273
State	Published - Dec 2010

Keywords

Centronuclear myopathy
DNM2
Dynamin 2
Muscle hypertrophy
Muscle pseudohypertrophy
Necklace fibers
Neutropenia

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Clinical Neurology
Genetics(clinical)

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title = "Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation",

abstract = "Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. DNM2-CMT but not DNM2-CNM patients were noted to have neutropenia. We here report a man with paravertebral muscles hypertrophy and mild neutropenia. His muscle biopsy was typical for CNM with additional {"}necklace{"} fibers. Sequencing of DNM2 revealed a known heterozygous c.1269C > T (p.Arg369Trp) mutation. Necklace fibers were considered as a pathological hallmark of late onset X-linked CNM due to mutations in MTM1 but have not been observed in DNM2-CNM. The findings broaden the features of DNM2-myopathy.",

keywords = "Centronuclear myopathy, DNM2, Dynamin 2, Muscle hypertrophy, Muscle pseudohypertrophy, Necklace fibers, Neutropenia",

author = "Teerin Liewluck and Lovell, {Tracy L.} and Bite, {Anna V.} and Engel, {Andrew G.}",

note = "Funding Information: This study was supported by the NIH/NINDS (NS6277, A.G.E). The dihydropyridine receptor-alpha 1 subunit (DHPRα1s) antibody developed by Kevin P. Campbell was obtained from the Developmental Studies Hybridoma Bank developed under the auspices of the NICHD and maintained by the University of Iowa, Department of Biology, Iowa City, IA 52242.",

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AU - Lovell, Tracy L.

AU - Bite, Anna V.

AU - Engel, Andrew G.

N1 - Funding Information: This study was supported by the NIH/NINDS (NS6277, A.G.E). The dihydropyridine receptor-alpha 1 subunit (DHPRα1s) antibody developed by Kevin P. Campbell was obtained from the Developmental Studies Hybridoma Bank developed under the auspices of the NICHD and maintained by the University of Iowa, Department of Biology, Iowa City, IA 52242.

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N2 - Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. DNM2-CMT but not DNM2-CNM patients were noted to have neutropenia. We here report a man with paravertebral muscles hypertrophy and mild neutropenia. His muscle biopsy was typical for CNM with additional "necklace" fibers. Sequencing of DNM2 revealed a known heterozygous c.1269C > T (p.Arg369Trp) mutation. Necklace fibers were considered as a pathological hallmark of late onset X-linked CNM due to mutations in MTM1 but have not been observed in DNM2-CNM. The findings broaden the features of DNM2-myopathy.

AB - Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. DNM2-CMT but not DNM2-CNM patients were noted to have neutropenia. We here report a man with paravertebral muscles hypertrophy and mild neutropenia. His muscle biopsy was typical for CNM with additional "necklace" fibers. Sequencing of DNM2 revealed a known heterozygous c.1269C > T (p.Arg369Trp) mutation. Necklace fibers were considered as a pathological hallmark of late onset X-linked CNM due to mutations in MTM1 but have not been observed in DNM2-CNM. The findings broaden the features of DNM2-myopathy.

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KW - Necklace fibers

KW - Neutropenia

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Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

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Keywords

ASJC Scopus subject areas

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