Three novel MTM1 pathogenic variants identified in Japanese patients with X ‐linked myotubular myopathy

ConclusionsAll variants were assessed as “Class 4 (likely pathogenic)” on the basis of the guideline of American College of Medical Genetics and Genomics. These distinct pathological features among the patients with variants in the second cluster of PTP domain inMTM1 provides an insight into microheterogeneities in disease phenotypes in XLMTM.

Source: Molecular Genetics & Genomic Medicine - March 17, 2019 Category: Genetics & Stem Cells Authors: Atsuko Nishikawa, Aritoshi Iida, Shinichiro Hayashi, Mariko Okubo, Yasushi Oya, Gaku Yamanaka, Ikuko Takahashi, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino Tags: CLINICAL REPORT Source Type: research