Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
| Autor: | Jean Pouget, Hanns Lochmüller, Carina Wallgren-Pettersson, Veronika Karcagi, Maja von der Hagen, Jérôme Franques, Vilma Lotta Lehtokari, Jean François Pellissier, Dominique Figarella-Branger, Agnes Herczegfalvi, Angela Huebner, Benedikt Schoser, Katarina Pelin |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Biopsy Muscle Proteins Myopathies Nemaline Compound heterozygosity Diagnosis Differential 03 medical and health sciences Nebulin 0302 clinical medicine Nemaline myopathy Humans Missense mutation Medicine Child Muscle Skeletal Myopathy Gene Genetics (clinical) 030304 developmental biology Hungary 0303 health sciences medicine.diagnostic_test biology business.industry Middle Aged medicine.disease 3. Good health Distal Myopathies Neurology Mutation Pediatrics Perinatology and Child Health biology.protein Female France Neurology (clinical) Differential diagnosis medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular Disorders. 21:556-562 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2011.05.012 |
| Popis: | Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease. We have previously reported a nonspecific distal myopathy caused by homozygous missense mutations in the nebulin gene in six Finnish patients from four different families. Here we describe three non-Finnish patients in two unrelated families with distal nemaline myopathy caused by four different compound heterozygous nebulin mutations, only one of which is a missense mutation. One of the mutations has previously been identified in one family with the severe form of nemaline myopathy. We conclude that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum. Nemaline myopathy should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distal myopathy. |
| Databáze: | OpenAIRE |
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