Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation
| Autor: | Pascale Richard, Marie-Christine Arne-Bes, Marie-Bernadette Delisle, Thierry Levade, Dominique Figarella-Branger, François Heitz, Jean-François Pellissier, Emmanuelle Uro-Coste |
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| Přispěvatelé: | Service d'anatomie pathologique et histologie-cytologie [Rangueil], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Institut de médecine moléculaire de Rangueil (I2MR), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-IFR150-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie et Explorations Fonctionnelles du Système Nerveux [Toulouse], Service de pathologie et neuropathologie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire de Biochimie [Purpan], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut Fédératif de Biologie (IFB) - Hôpital Purpan, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], Clinique Pasteur, Clinique Pasteur [Toulouse], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées- Institut Fédératif de Recherche Bio-médicale Institution (IFR150)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Laboratoire de Biochimie [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Simon, Marie Francoise |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
DNA Mutational Analysis
Physiology MESH: Myosin Heavy Chains MESH: Genotype 0302 clinical medicine Myosin MESH: Genetic Variation MESH: DNA Mutational Analysis MESH: Cardiac Myosins Index case Genetics (clinical) media_common 0303 health sciences Daughter MESH: Muscle Skeletal MESH: Middle Aged MESH: Genetic Predisposition to Disease Heart Middle Aged MESH: Amino Acid Substitution medicine.anatomical_structure Phenotype Neurology MESH: Young Adult Mutation (genetic algorithm) Muscle Hypotonia Female Cardiomyopathies medicine.medical_specialty Proximal muscle weakness MESH: Mutation MESH: Myocardium Genotype Proline media_common.quotation_subject Biology MESH: Phenotype 03 medical and health sciences Young Adult Muscular Diseases Leucine Internal medicine medicine Humans Genetic Predisposition to Disease Muscle Skeletal 030304 developmental biology MESH: Proline MESH: Humans Myosin Heavy Chains MESH: Muscle Hypotonia Myocardium MESH: Muscular Diseases Skeletal muscle Genetic Variation MESH: Heart Endocrinology MESH: Leucine Amino Acid Substitution MESH: Cardiomyopathies Pediatrics Perinatology and Child Health Mutation MYH7 Neurology (clinical) Age of onset Cardiac Myosins MESH: Female 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular Disorders Neuromuscular Disorders, Elsevier, 2009, 19 (2), pp.163-6. ⟨10.1016/j.nmd.2008.11.012⟩ Neuromuscular Disorders, 2009, 19 (2), pp.163-6. ⟨10.1016/j.nmd.2008.11.012⟩ |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2008.11.012⟩ |
| Popis: | International audience; Myosin Storage Myopathies (MSM) have emerged as a new group of inherited myopathies with heterogenous clinical severity and age of onset. We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mutation has already been reported to be associated with MSM presenting as neonatal hypotony. Our index case complained of proximal muscle weakness at age 30. Her daughter presented at birth with a cardiomyopathy without any skeletal muscle involvement. This report underlines the clinical variability of MSM even with a given mutation or in a same family. |
| Databáze: | OpenAIRE |
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