What does this research mean for the field?

The Glu180 nonsense mutation in the slow skeletal muscle troponin T gene results in the complete loss of slow TnT protein, causing selective type 1 fiber atrophy and postnatal onset of Amish Nemaline Myopathy due to the eventual down-regulation of compensatory fetal TnT isoforms. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

July 1, 2003Journal of Biological ChemistryOpen Access

Truncation by Glu180 Nonsense Mutation Results in Complete Loss of Slow Skeletal Muscle Troponin T in a Lethal Nemaline Myopathy

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Population

Patients with Amish Nemaline Myopathy with a nonsense mutation at codon Glu180 in the slow skeletal muscle…

Design

Other

Authors

JJJian‐Ping JinHeart Failure & Transplant MBMarco BrottoThe University of Texas at Arlington MHM. Moazzem HossainWayne State University

Discussion

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Implication

Supports molecular diagnosis in ANM; leaves open whether fetal TnT restoration could modify progression.

Structured PICO

Population

Patients with Amish Nemaline Myopathy (ANM) with a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene

Outcome

Presence of slow TnT protein in musclesurrogate

The Glu180 nonsense mutation in ANM causes complete loss of slow skeletal muscle troponin T, leading to selective type 1 fiber atrophy and infantile disease progression as fetal TnT isoforms are down-regulated.

Cite This Study

Jin et al. (2003) studied this question.

synapsesocial.com/papers/6a19639fc3e09444f388cd70 https://doi.org/10.1074/jbc.m303469200

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Truncation by Glu180 Nonsense Mutation Results in Complete Loss of Slow Skeletal Muscle Troponin T in a Lethal Nemaline Myopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Truncation by Glu180 Nonsense Mutation Results in Complete Loss of Slow Skeletal Muscle Troponin T in a Lethal Nemaline Myopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider