Article
HACD1-related congenital myopathy skeletal muscle MRI findings in a Brazilian cohort.
Neuromuscular disorders : NMD - 1 Jul 2026
Martins Aldrin Pedroza, Mecê Alexandre Motta, Iwabe Cristina, Moreschi Felipe, Grossklaus Luis Fernando, Dertkigil Sérgio Sj, Martinez Alberto Rolim Muro, Nucci Anamarli, França Marcondes C
Abstract excerpt
HACD1-related congenital myopathy is an ultra-rare congenital myopathy recently described in families from the Middle East or Asia. Clinical phenotype has been described, but little is known about the pattern of muscle MRI abnormalities. We describe four Brazilian patients from unrelated families including not only clinico-pathological, but also muscle MRI findings. All patients shared the known pattern of early...
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