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April 10, 2001Neurology

Secondary calpain3 deficiency in 2q-linked muscular dystrophy

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Population

Patients with Tibial muscular dystrophy (TMD) and MD with myositis (MDM) mouse model

Comparison

Genetic and protein analysis of the titin gene… vs Controls

Design

Preclinical

Authors

HHHenna HaravuoriAVAnna ViholaVSVolker Straub

Discussion

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Overview

May link titin mutations to secondary calpain3 loss in TMD; hypothesis-generating for LGMD2A overlap, needs human confirmation.

Structured PICO

P
Population
Patients with Tibial muscular dystrophy (TMD) and MD with myositis (MDM) mouse model
I
Intervention
Genetic and protein analysis of the titin gene and its ligands (sequencing, Southern blot, immunohistochemistry, Western blot)
C
Comparator
Controls
O
Outcome
Calpain3 levels and apoptotic myonuclei distributionsurrogate

Titin mutations may be responsible for Tibial muscular dystrophy, leading to a secondary calpain3 deficiency that overlaps pathophysiologically with LGMD2A.

Cite This Study

Haravuori et al. (2001) studied this question.

synapsesocial.com/papers/6a707238ac440176ef291c4ehttps://doi.org/10.1212/wnl.56.7.869
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The first European family with tibial muscular dystrophy outside the Finnish population1998 · 45 citations
  2. 2Muscular dystrophy with separate clinical phenotypes in a large family1991 · 94 citations
  3. 3Nature of PEVK-titin elasticity in skeletal muscle1998 · 257 citations