PLEC1 mutation associated with left ventricular hypertrabeculation/noncompaction

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset

“…[4][5][6] In the presented case, the implications of the thyroid dysfunction, hyperhidrosis, hyperlipidaemia and autonomic and sensory involvement were neglected. In order to avoid misdiagnosis, clinical manifestations should not be ignored and a common cause of seemingly unrelated manifestations should not be excluded.…”

“…Since most MIDs develop into MIMODS during the disease course, it is usually just a matter of time before MIMODS becomes evident. 4,5 Nevertheless, it is important to note that ALS may also show morphological evidence of a mitochondrial defect. Hirano et al reported a 65-year-old ALS patient whose muscle biopsy showed 10% ragged- and alterations of the mitochondrial genome and transcriptome.…”

Avaliação da capacidade funcional, da função miocárdica e de biomarcadores cardíacos em pacientes com miocárdio não-compactado

“…No entanto, essa mutação não parece estar presente na população adulta, sugerindo que o MNC presente no adulto pode estar relacionado com outras alterações genéticas (21,25) .…”