April 1, 2014Human MutationOpen Access

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

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Population

93 families with congenital myopathies (53 with TPM2 mutations and 40 with TPM3 mutations)

Design

Case_series

Authors

MMM. MarttilaUniversity of Helsinki VLVilma‐Lotta LehtokariUniversity of Helsinki SMSteven B. MarstonImperial College London

Discussion

Member takes

Implication

Contracture evaluation may be prioritized in hypercontractile TPM2/TPM3 cases; leaves open genotype-phenotype implications pending larger studies.

Structured PICO

Population

93 families with congenital myopathies (53 with TPM2 mutations and 40 with TPM3 mutations)

Outcome

Genotype-phenotype correlations (clinical presentation, contractures, molecular phenotype)

TPM2 and TPM3 mutations cause distinct congenital myopathy phenotypes, with hypercontractile mutations strongly associated with limb and jaw contractures.

Cite This Study

Marttila et al. (2014) studied this question.

synapsesocial.com/papers/6a7e67597f55e1ae3983eada https://doi.org/10.1002/humu.22554

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Implication

Contracture evaluation may be prioritized in hypercontractile TPM2/TPM3 cases; leaves open genotype-phenotype implications pending larger studies.

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider