Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene
| Autor: | Katarina Pelin, Vilma-Lotta Lehtokari, Maria Gardberg, Carina Wallgren-Pettersson |
|---|---|
| Přispěvatelé: | Department of Medical and Clinical Genetics, Medicum, Molecular and Integrative Biosciences Research Programme, Katarina Pelin / Principal Investigator, Genetics, Biosciences, University of Helsinki |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Three-generation family Dominant inheritance Clinical variability Myopathies Nemaline medicine.disease_cause Myotonic dystrophy 03 medical and health sciences 0302 clinical medicine Nemaline myopathy medicine Humans Muscle Skeletal Gene Genetics (clinical) Mutation business.industry Skeletal muscle Muscle weakness ta3121 medicine.disease Congenital myopathy Actins Skeletal muscle alpha-actin Phenotype 030104 developmental biology medicine.anatomical_structure CONGENITAL MYOPATHY ACTA1 MUTATION Neurology Child Preschool Alpha-Actin Pediatrics Perinatology and Child Health 3111 Biomedicine Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular Disorders. 28:323-326 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2017.12.009 |
| Popis: | We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle alpha-actin gene, p.(Glu85Lys), segregating in three generations. The index patient, a 5-year-old boy, had the typical form of nemaline myopathy with congenital muscle weakness and motor milestones delayed but reached, while his mother never had sought medical attention for her very mild muscle weakness, and his maternal grandmother had been misdiagnosed as having myotonic dystrophy. This illustrates the clinical variability in nemaline myopathy. (C) 2017 Elsevier B.V. All rights reserved. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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