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Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).
Abdulhaq, Ulla Najwa; Daana, Mohannad; Dor, Talia; Fellig, Yakov; Eylon, Sharon; Schuelke, Markus; Shaag, Avraham; Elpeleg, Orly; Edvardson, Simon.
Afiliación
  • Abdulhaq UN; Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Daana M; Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Dor T; Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Fellig Y; Department of Pathology Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Eylon S; Alyn Hospital Pediatric and Adolescent Rehabilitation Center, Jerusalem, Israel.
  • Schuelke M; Klinik für Pädiatrie Neurologie and NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Berlin, Germany.
  • Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Edvardson S; Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Muscle Nerve ; 53(4): 564-9, 2016 Apr.
Article en En | MEDLINE | ID: mdl-26296490

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miopatías Nemalínicas / Árabes / Troponina T / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Muscle Nerve Año: 2016 Tipo del documento: Article País de afiliación: Israel

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miopatías Nemalínicas / Árabes / Troponina T / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Muscle Nerve Año: 2016 Tipo del documento: Article País de afiliación: Israel