Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

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Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

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2016年论文

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name

Variable phenotypic expression ...... ational North American family.

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Item

label

Variable phenotypic expression ...... ational North American family.

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prefLabel

Variable phenotypic expression ...... ational North American family.

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P1476

Variable phenotypic expression ...... ational North American family.

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P2093

Corey Ruhno

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Jennifer Roggenbuck

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John T Kissel

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Pamela J Snyder

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Stanley Iyadurai

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Stephen J Kolb

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Thomas W Prior

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Vicki L Mcgovern

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W David Arnold

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P2860

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Fast and accurate long-read alignment with Burrows-Wheeler transform

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341-345

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scholarly article

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10.1002/MUS.25491

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P433

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P478

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A Burghes

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2016-11-22T00:00:00Z

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27875632

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5440221

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