June 27, 2012Neuromuscular DisordersOpen Access

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

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Why the study?

What is the frequency and characterization of ANO5 mutations in an Italian cohort of LGMD patients?

Population

228 Italian patients with limb-girdle muscular dystrophy (LGMD)

Design

Cohort

Authors

FMFrancesca MagriFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico RBRoberto Del BoUniversity of Milan MDMaria Grazia D’AngeloIRCCS Eugenio Medea

Discussion

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Implication

Supports regional LGMD genetic testing in Italy; leaves open ancestry-specific ANO5 epidemiology across Europe.

Structured PICO

What is the frequency and characterization of ANO5 mutations in an Italian cohort of LGMD patients?

Population

228 Italian patients with limb-girdle muscular dystrophy (LGMD)

Intervention

Genetic testing for anoctamin 5 (ANO5) mutations

Outcome

Prevalence of LGMD2L and the c.191dupA mutation

ANO5 mutations are a rare cause of LGMD in Italy (~2%), presenting with a distinct molecular epidemiology compared to Northern/Central Europe and a benign clinical course without cardiac impairment.

Cite This Study

Magri et al. (2012) studied this question.

synapsesocial.com/papers/69d56df675589c71d767d22b https://doi.org/10.1016/j.nmd.2012.05.001

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Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider