Lethargic 发表于 2025-3-25 05:15:10
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https://doi.org/10.1007/978-3-030-87900-6ll harbor subclinical neuromuscular disease which may be elucidated by muscle biopsy, but some remain entirely normal, thereby meriting the diagnosis of “idiopathic hyperCKemia.” Cases with mutations of the caveolin 3 (CAV3) gene have been described, a condition that is allelic with . (.), . type 1CLINES 发表于 2025-3-25 20:52:20
Yong Ma,Xiu-li Chen,Tu Ya,Tong Weny also be mirror movements Brain imaging may show arhinencephaly. This is a clinically and genetically heterogeneous syndrome. Mutations in five genes have been demonstrated to date, but in less than 30% of patients: KAL1 (X-linked recessive form), FGFR1 and FGF8 (autosomal dominant with incomplete亚麻制品 发表于 2025-3-26 00:24:40
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https://doi.org/10.1007/978-3-030-87900-6rkinsonism, dystonia, eyelid retraction with bulging eyes, and bulbar fasciculation. Considerable variation within and between families is noted. Classified phenotypically within the category of . (.) type I, its genetic basis has been shown to be mutation of a gene, ATXN3, at chromosome 14q32.1, w格言 发表于 2025-3-26 10:32:41
https://doi.org/10.1007/978-3-031-23944-1infected water; the presentation mimics that of acute bacterial .. Examination of CSF may reveal motile trophozoites. Prognosis is poor, with death within 1 week the norm. Amphotericin (systemic, intrathecal) is the treatment most usually given, although miconazole, rifampicin, doxycycline, or chlorAccessible 发表于 2025-3-26 13:45:11
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