A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.

Kao, Justin C; Liewluck, Teerin; Milone, Margherita

Kao, Justin C; Liewluck, Teerin; Milone, Margherita.

Affiliation

Kao JC; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Liewluck T; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Milone M; Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address: milone.margherita@mayo.edu.

J Clin Neurosci ; 53: 261-262, 2018 Jul.

Article in En | MEDLINE | ID: mdl-29731279

Subject(s)

Actins/genetics; Muscle Weakness/genetics; Muscle Weakness/pathology; Myopathies, Nemaline/genetics; Myopathies, Nemaline/pathology; Female; HIV Infections/complications; Humans; Middle Aged; Muscle Fibers, Skeletal/pathology; Mutation

Key words

ACTA1; Nemaline myopathy; SLONM; Sporadic late onset nemaline myopathy

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Actins / Myopathies, Nemaline / Muscle Weakness Limits: Female / Humans / Middle aged Language: En Journal: J Clin Neurosci Journal subject: NEUROLOGIA Year: 2018 Document type: Article Affiliation country: United States Country of publication: United kingdom

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