Muscle fiber type disproportion with an autosomal dominant inheritance
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چکیده
منابع مشابه
Congenital muscle fiber-type disproportion
Congenital muscle fiber-type disproportion is a condition that can be defined only in the muscle biopsy by 2 obligatory criteria of “disproportion”: (1) a massive type I myofiber predominance of 80% or more, and (2) myofibers of type I are uniformly smaller than normal for age by 2 standard deviations or more, but are not necessarily angular or rounded as in myofiber atrophy. Internal sarcolemm...
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Three generations of a family with clinical and subclinical hypothyroidism caused by thyroid stimulating hormone (TSH) unresponsiveness are described. Findings were low to normal serum thyroxine, raised serum TSH, and low radioiodine uptake; goitre was notably absent. This family is the first evidence of an autosomal dominant mode of transmission of TSH unresponsiveness and may enable identific...
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Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hy...
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BACKGROUND Mongolian spots are benign skin markings at birth which fade and disappear as the child grows. Often persistent extensive Mongolian spots are associated with inborn error of metabolism. We report thirteen people of the single family manifested with extensive Mongolian spots showing autosomal dominant inheritance. CASE PRESENTATION A one day old female child, product of second degre...
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ژورنال
عنوان ژورنال: Yonsei Medical Journal
سال: 2000
ISSN: 0513-5796
DOI: 10.3349/ymj.2000.41.2.281