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7 risultati
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.
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BACKGROUND
Lethal multiple pterygium syndrome (LMPS, OMIM 253290), is a fatal disorder associated with anomalies of the skin, muscles and skeleton. It is characterised by prenatal growth failure with pterygium present in multiple areas and akinesia, leading to muscle weakness and severe
Physical therapy intervention for an adolescent with a knee flexion contracture and diagnosis of multiple pterygium syndrome.
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OBJECTIVE
The purpose of this case report is to describe a course of physical therapy for a client with a rare genetic condition, multiple pterygium syndrome (MPS).
CONCLUSIONS
MPS is a rare genetic disorder characterized by connective tissue webbing across multiple joints, dysmorphic facies, and
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.
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In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane protein with five different subunits, coded by CHRNA1, CHRNB, CHRND and CHRNG/CHRNE. The gamma subunit of AChR encoded by CHRNG is expressed during early foetal development, whereas in the adult, the γ subunit
Reduced number of hemidesmosomes in the corneal epithelium of diabetics with proliferative vitreoretinopathy.
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Morphometry on transmission electron micrographs of the hemidesmosomal width was related to the length of the basal plasmalemma in corneal epithelium biopsy specimens. The basal plasmalemma length occupied by hemidesmosomes showed a mean fraction of 0.227 in eight patients undergoing cataract
Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
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BACKGROUND
Fetal akinesia deformation sequence syndrome (FADS) is a heterogeneous disorder characterised by fetal akinesia and developmental defects including, in some case, pterygia. Multiple pterygium syndromes (MPS) are traditionally divided into prenatally lethal and non-lethal (such as Escobar)
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.
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Tropomyosin (Tm) and the troponins (troponin I, troponin T and troponin C) are proteins that work cooperatively to regulate muscle contraction, making actin-myosin interactions sensitive to cytosolic calcium levels. Several isoforms exist for each component in this group, each having a specific
Ocular complications in newly diagnosed borderline lepromatous and lepromatous leprosy patients: baseline profile of the Indian cohort.
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OBJECTIVE
To describe ocular manifestations in newly diagnosed borderline lepromatous (BL) and lepromatous leprosy (LL) patients in India.
METHODS
Ocular complications, at enrolment, occurring in all new borderline lepromatous and lepromatous leprosy patients detected by active case finding within
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