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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-26296490

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Arabs / Troponin T / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Muscle Nerve Year: 2016 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Arabs / Troponin T / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Muscle Nerve Year: 2016 Document type: Article Affiliation country: Country of publication: