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- W2756185280 abstract "Clinical manifestations of dystrophin gene (DMD) mutations are heterogeneous, ranging from the classic and severe Duchenne muscular dystrophy to asymptomatic individuals with hyperCK. We hereby present a patient with an atypical clinical presentation – distal asymmetric weakness of the upper limbs – caused by a novel mutation in the DMD gene. The patient is a male aged 58 years, without parental consanguinity, presenting weakness of right upper limb since 2001. In 2003 a symptomatic dilated cardiomyopathy was diagnosed and controlled with anti-arrhythmics and oral anticoagulation. In 2015, due to cardiac dysfunction worsening, a cardiodisfibrillator was implanted. A transthoracic echocardiography and cardiac angiography with radionuclide revealed a severe reduction of the left ventricular ejection fraction (28%) and cardiac catheterism did not show coronary disease. There was a moderate restrictive respiratory syndrome. Neurological examination revealed severe atrophy of right thenar muscles, flexion contractures of the right arm (elbow, wrist, thumb and 2nd-3rd-4th fingers), bilateral calf hypertrophy, myotactic arreflexia in the upper limbs and hyporeflexia in the lower limbs. Muscular strength examination showed distal weakness of right upper limb muscles: abductor pollicis brevis and extensor pollicis longus, grade 0, interossei, grade 3-, finger extensor and brachioradialis, grade 4 and 4 + , respectively. Imaging of the cervical cord was normal. Laboratory examination revealed hyperCK (≈1500 UI/L), EMG a myopathic pattern, and deltoid muscle biopsy a myopathic pattern with sub-expression of dystrophin. Next-generation sequencing identified a variant c.C7525T in exon 51 of DMD gene, which promotes a STOP codon, present in 70% of the gene readings (consistent with mosaicism). Patient's elder daughter is a carrier of the mutated gene, and presented calf hypertrophy without muscular weakness or hyper-CK. We present a novel mutation in the DMD gene, causing a not yet reported and atypical clinical presentation." @default.
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- W2756185280 date "2017-10-01" @default.
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- W2756185280 title "Novel mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs" @default.
- W2756185280 doi "https://doi.org/10.1016/j.nmd.2017.06.049" @default.
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