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Article

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.

Brain & development - 1 Aug 2015

Montassir Hesham, Maegaki Yoshihiro, Murayama Kei, Yamazaki Taro, Kohda Masakazu, Ohtake Akira, Iwasa Hiroyasu, Yatsuka Yukiko, Okazaki Yasushi, Sugiura Chitose, Nagata Ikuo, Toyoshima Mitsuo, Saito Yoshiaki, Itoh Masayuki, Nishino Ichizo, Ohno Kousaku

Abstract excerpt

We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 months of age. She showed significant hypotonia and hepatomegaly. Laboratory tests showed...

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Source

Identifiers

PMID: 25466440
DOI: 10.1016/j.braindev.2014.10.013

Genes

POLG

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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