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Article

Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy.

Neuromuscular disorders : NMD - 1 Mar 2021

Sato Takatoshi, Awano Hiroyuki, Ishiguro Kumiko, Shichiji Minobu, Murakami Terumi, Shirakawa Taku, Matsuo Masafumi, Nagata Satoru, Ishigaki Keiko

Abstract excerpt

Fukuyama congenital muscular dystrophy (FCMD) is the second most prevalent childhood-onset muscular dystrophy in Japan. It is an autosomal recessive disorder caused by the fukutin mutation (FKTN), characterized by muscle wasting and brain abnormalities. So far, serum creatine kinase (CK) is recognized as the only biomarker for FCMD. Recently, an ELISA assay to quantify the N-terminal fragment of titin in urine...

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PMID: 33563515
DOI: 10.1016/j.nmd.2021.01.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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