Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old g...
| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
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| Μορφή: | Journal article |
| Γλώσσα: | English |
| Έκδοση: |
Elsevier
2016
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| _version_ | 1826269493847916544 |
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| author | Seferian, AM Malfatti, E Bosson, C Pelletier, L Taytard, J Forin, V Gidaro, T Gargaun, E Carlier, P Fauré, J Romero, NB Rendu, J Servais, L |
| author_facet | Seferian, AM Malfatti, E Bosson, C Pelletier, L Taytard, J Forin, V Gidaro, T Gargaun, E Carlier, P Fauré, J Romero, NB Rendu, J Servais, L |
| author_sort | Seferian, AM |
| collection | OXFORD |
| description | Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor development, and further mild difficulties in walking and fatigability. A muscle biopsy revealed the presence of nemaline bodies. KLHL40 gene Sanger sequencing disclosed a never before reported pathogenic homozygous mutation which resulted in absent KLHL40 protein expression in the muscle. This further expands the phenotypical spectrum of KLHL40 related nemaline myopathy. |
| first_indexed | 2024-03-06T21:25:55Z |
| format | Journal article |
| id | oxford-uuid:43154ac0-2645-4b93-9953-e7c29f109444 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:25:55Z |
| publishDate | 2016 |
| publisher | Elsevier |
| record_format | dspace |
| spelling | oxford-uuid:43154ac0-2645-4b93-9953-e7c29f1094442022-03-26T14:53:24ZMild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:43154ac0-2645-4b93-9953-e7c29f109444EnglishSymplectic ElementsElsevier2016Seferian, AMMalfatti, EBosson, CPelletier, LTaytard, JForin, VGidaro, TGargaun, ECarlier, PFauré, JRomero, NBRendu, JServais, LNemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor development, and further mild difficulties in walking and fatigability. A muscle biopsy revealed the presence of nemaline bodies. KLHL40 gene Sanger sequencing disclosed a never before reported pathogenic homozygous mutation which resulted in absent KLHL40 protein expression in the muscle. This further expands the phenotypical spectrum of KLHL40 related nemaline myopathy. |
| spellingShingle | Seferian, AM Malfatti, E Bosson, C Pelletier, L Taytard, J Forin, V Gidaro, T Gargaun, E Carlier, P Fauré, J Romero, NB Rendu, J Servais, L Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) |
| title | Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) |
| title_full | Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) |
| title_fullStr | Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) |
| title_full_unstemmed | Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) |
| title_short | Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) |
| title_sort | mild clinical presentation in klhl40 related nemaline myopathy nem 8 |
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