Selective Muscle Fiber Hypoplasia and Epiphyseal Osteolysis
نویسندگان
چکیده
منابع مشابه
Congenital Hypoplasia of Depressor Angularis Oris Muscle.
Papadatos, C., Alexiou, D., Nicolopoulos, D., Mikropoulos, H., and Hadzigeorgiou, E. (1974). Archives of Disease in Childhood, 49, 927. Congenital hypoplasia of depressor anguli oris muscle: a genetically determined condition? The frequency of hypoplasia of the depressor anguli oris muscle was 37 cases among 4 530 consecutive births (8 -2 %). Diagnosis was based on clinical and electromyographi...
متن کاملCongenital hypoplasia of depressor anguli oris muscle
Papadatos, C., Alexiou, D., Nicolopoulos, D., Mikropoulos, H., and Hadzigeorgiou, E. (1974). Archives of Disease in Childhood, 49, 927. Congenital hypoplasia of depressor anguli oris muscle: a genetically determined condition? The frequency of hypoplasia of the depressor anguli oris muscle was 37 cases among 4 530 consecutive births (8 -2 %). Diagnosis was based on clinical and electromyographi...
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RPL10 encodes ribosomal protein L10 (uL16), a highly conserved multifunctional component of the large ribosomal subunit, involved in ribosome biogenesis and function. Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A64V)) in the N-terminal domain of the protein, in a family with two affected cousins presenting with X-linked intellectual disability, cerebellar h...
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The diversity of muscle fiber types present in adult animals is present also in the fetus. Fibers generated early and late in fetal development undergo a stereotyped sequence of myosin expressions in giving rise to these fiber types. The differentiation of these fetal fiber types does not require innervation. However, evidence obtained from experiments identifying the types of fibers innervated...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1977
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197708000-00014