منابع مشابه
Abnormalities of the electrocardiogram in hereditary myopathies.
Cardiac as well as skeletal muscle is affected in the severe X-linked recessive form of Duchenne muscular dystrophy. Clinically this is evidenced by persistent tachycardia, arrhythmias; nonspecific murmurs and sudden death from cardiac failure is common in this disorder. Histological evidence of cardiac muscle involvement includes variation in fibre size, hyalinization, fatty infiltration, and ...
متن کاملAbnormalities of visual function in hereditary motor and sensory neuropathy.
Visual function was studied in a group of 15 patients with hereditary motor and sensory neuropathy (HMSN). Psychophysical measures of luminance and chromatic threshold and temporal contrast sensitivity were undertaken, together with visual evoked potentials (VEPs), visual fields and clinical neuro-ophthalmological examination. A patchy loss of visual function was found in individual cases of HM...
متن کاملLysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
OBJECTIVE Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1-71) to date. SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic ...
متن کاملCardiac abnormalities in patients with Leber's hereditary optic neuropathy.
Leber’s hereditary optic neuropathy (LHON) is characterised by acute or subacute central visual loss that typically occurs in early adult life. Three mitochondrial DNA (mtDNA) point mutations, 3460, 11778, and 14484, account for more than 90% of all LHON cases. Cardiac involvement in LHON has been suspected ever since Leber’s original 1871 report in which some patients with the disease complain...
متن کاملHereditary Brachydactylia and Allied Abnormalities in the Rabbit
A series of deformities in the rabbit ranging from brachydactylia to acheiropodia have been described. Experimental breeding demonstrated that the occurrence of the deformities was determined by simple recessive hereditary factors and that the various types were genetically related and were not distinct hereditary entities. Embryological investigation showed the first abnormal change was a dila...
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ژورنال
عنوان ژورنال: Annales de Zootechnie
سال: 1979
ISSN: 0003-424X
DOI: 10.1051/animres:19790346