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trunk and upper limbs. She also had macrocephaly, however ocular
movements were normal. Brain MRI and motor nerve conduction velocity
were normal. Babys mother was heterozygous for this mutation, without
any clinical manifestation of the disease. Authors conclude that
manifestation of congenital weakness and hypotonia might be connected
to potential existence of primary adenosine monophosphate deaminase
deficiency, suggesting histochemical /molecular analysis to be performed
in each adenosine monophospate deaminase negative case .- PMID: 21343608