A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy
نویسندگان
چکیده
منابع مشابه
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy
BACKGROUND AND OBJECTIVES Nemaline myopathy may be caused by pathogenic variants in the TPM3 gene and is then called NEM1. All previously identified disease-causing variants are point mutations including missense, nonsense and splice-site variants. The aim of the study was to identify the disease-causing gene in this patient and verify the NM diagnosis. METHODS Mutation analysis methods inclu...
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ژورنال
عنوان ژورنال: Journal of Neuromuscular Diseases
سال: 2015
ISSN: 2214-3599,2214-3602
DOI: 10.3233/jnd-150107