TRIM32 variants associated with limb girdle muscular dystrophy type R8 are distributed across most protein domains and do not predict clinical severity.
Patients with Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants (LGMDR8)
Clinical severity and age of onset
TRIM32 variants in LGMDR8 do not predict clinical severity, and the disease has a highly variable age of onset.
Absolute Event Rate: 0% vs 0%
LGMDR8 is very rare in non-Hutterite patients. Age of onset is highly variable. Variants are distributed across most protein domains and did not predict clinical severity.
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Alexandre Guérémy
Hôpital de la Timone
Victor Morel
Hôpital de la Timone
T. Stojkovic
Sorbonne Université
Muscle & Nerve
Centre National de la Recherche Scientifique
Inserm
Sorbonne Université
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Guérémy et al. (Mon,) reported a other. TRIM32 variants associated with limb girdle muscular dystrophy type R8 are distributed across most protein domains and do not predict clinical severity.
synapsesocial.com/papers/69d8940c6c1944d70ce04f56 — DOI: https://doi.org/10.1002/mus.70229