A Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians,Annals of Neurology

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A Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians
Annals of Neurology ( IF 11.2 ) Pub Date : 2020-04-01 , DOI: 10.1002/ana.25685
David Pellerin ₁ , Asli Aykanat ₂ , Benjamin Ellezam ₃ , Emily C Troiano ₂ , Jason Karamchandani ₄ , Marie-Josée Dicaire ₁ , Marc Petitclerc ₅ , Rebecca Robertson ₁ , Xavier Allard-Chamard ₁ , Denis Brunet ₆ , Chamindra G Konersman ₇ , Jean Mathieu _{8,

9} , Jodi Warman Chardon ₁₀ , Vandana A Gupta ₁₁ , Alan H Beggs ₂ , Bernard Brais _{1,

9,

12} , Nicolas Chrestian ₁₃

Affiliation

Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Department of Pathology, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.
Department of Pathology, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
Department of Neurology, Hôpital Hôtel-Dieu de Lévis, Lévis, Quebec, Canada.
Department of Neurology, Hôpital de l'Enfant Jésus, Université Laval, Quebec City, Quebec, Canada.
Department of Neurosciences, University of California, San Diego, San Diego, CA.
Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
Neuromuscular Disease Clinic, Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-Saint-Jean, Jonquière, Quebec, Canada.
Department of Neurosciences, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Department of Child Neurology, Centre Hospitalier de l'Université Laval et Centre Mère-Enfant Soleil, Université Laval, Quebec City, Quebec, Canada.

Recessive null variants of the slow skeletal muscle troponin T1 (TNNT1) gene are a rare cause of nemaline myopathy that is fatal in infancy due to respiratory insufficiency. Muscle biopsy shows rods and fiber type disproportion. We report on 4 French Canadians with a novel form of recessive congenital TNNT1 core‐rod myopathy.

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