“…Moreover, extramuscular abnormalities, such as joint contractures, paradoxical insulin resistance, and body mass alteration, have also been observed in some patients (4,6,7). Lower body mass index (BMI) with fat tissue loss was often reported in patients around puberty, leading to a cachexia phenotype (8,9). Mild cardiac changes or heart failure has been described in anecdotical cases (10).…”