Zasp-related Myopathy

Limb Girdle And Congenital Muscular Dystrophies: Current ...
Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging Technologies ZASP-related Lower legs and hands LDB3-ZASP Integrin assembly in functional as congenital myopathy shows more of a developmental ... View Full Source

Www.nature.com
Cardiomyopathy, dilated 1C | Left ventricular noncompaction 3 with or without dilated cardiomyopathy | Myopathy, myofibrillar, ZASP-related. Leukemia, acute myeloid | Lipoma Basal cell carcinoma, somatic | Capillary malformation-arteriovenous malformation | Parkes Weber syndrome * ... Doc Retrieval

Progress In Pediatric Cardiology - Ppc-journal.com
With these mutations has been termed ZASPopathy or ZASP-related myofibril myopathy [17,25–29]. However, the mechanism by which cypher mutations lead to cardio- or skeletal-myopathies is still unclear [5,30]. Similar to cypher, another member of PDZ-LIM domain protein ... Fetch Document

Distal Muscular Dystrophy - Wikipedia, The Free Encyclopedia
Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the hands or feet. Many types involve dysferlin, but it has been suggested that not all cases do. ... Read Article

Page 1 Of 5 - MedUni Wien
Myopathy, congenital, with fiber-type disproportion CFTD SEPN1 selenoprotein N, 1 1p36.13 255310 Myofibrillar myopathy, ZASP-related MFM LDB3 LIM domain binding 3 10q22.3-q23.2 609452 Selcen (2005) Ann Neurol 57, 269 DISTAL MYOPATHIES ... Fetch Here

SAN TA C RUZ BI OTEC HNOL OG Y, INC . Cypher (H-83): Sc-98653
Non-compaction and ZASP-related myofibrillar myopathy (MFM), all three of which are characterized by defects in cardiac muscle form and/or function. Six isoforms of Cypher exist due to alternative splicing events. REFERENCES 1. Zhou, Q., et al. 1999. ... Doc Retrieval

Anna Kostareva1,2, Thomas Sejersen2, Gunnar Sjoberg2
Genetic spectrum of cardiomyopathies with neuromuscular phenotype Anna Kostareva1,2, Thomas Sejersen2, Gunnar Sjoberg2 1Almazov Federal Heart, Blood and Endocrinology Centre, St. Petersburg, 197341, Russia, 2Department of Woman and Child ... Document Retrieval

Distal myopathies A Review: Highlights On Distal myopathies ...
Myopathy with rimmed vacuoles, or Nonaka myopathy, will be discussed in more detail. Key words: Amyloid, hIBM, sialic acid -B crystallin) 11q22.3-q23.1 AD ZASP-related MFM 40-60 Lower legs and hands Normal to 3x elevated LDB3/ZASP 10q 22.2-q23.3 AD, ... Access Document

SAN TA C RUZ BI OTEC HNOL OG Y, INC . Cypher (T-17): Sc-82848
Paction and ZASP-related myofibrillar myopathy (MFM), all three of which are characterized by defects in cardiac muscle form and/or function. Six isoforms of Cypher exist due to alternative splicing events. REFERENCES 1. Zhou, Q., et al. 1999. ... Read Here

CONGENITAL MUSCULAR DYSTROPHIES - MedUni Wien
CONGENITAL MUSCULAR DYSTROPHIES Muscular dystrophy, congenital merosin-deficient, Myopathy, congenital, with fiber-type disproportion 3 CFTD ACTA1 255310 Myofibrillar myopathy, ZASP-related MFM LDB3 LIM domain binding 3 10q22.3-q23.2 609452 ... Fetch Full Source

Anti-LDB3 Antibody Ab62179 - Abcam
Defects in LDB3 are the cause of myopathy myofibrillar ZASP-related (MFM-ZASP) [MIM:609452]. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. Sequence similarities Contains 3 LIM zinc-binding domains. ... Retrieve Content

ZASP MUTATION ANALYSIS - Baylor College Of Medicine
Ventricular non-compaction (LVNC), and ZASP-related myofibrillar myopathy (MFM). REASONS FOR REFERRAL METHODOLOGY Genomic DNA will be analyzed for ZASP mutations by automatic fluorescent DNA sequencing of all 2 exons of the ZASP ... Fetch Here

Link.springer.com
Myopathy myofibrillar, ZASP related 10q22.2-23.3 Myotilinopathy 5q31 Spheroid body myopathy Myofibrillar myopathy, filamin-C related 7q32 Myofibrillar myopathy with BAG3 defect 10q25.2-q26.2 Danon disease (Glycogen storage IIB) Xq24 XD ... Fetch Full Source

Www.cell.com
2.2699999999999999e-13 12. 1.5500000000000001e-12 28. 8.8800000000000004e-10 19. 1.9099999999999998e-9 15. 2.64e-9 15. 4.1700000000000003e-9 8. 2.1500000000000001e-8 ... Fetch Document

Factsheet Myofibrillar Myopathy Panel - CENTOGENE
Factsheet Myofibrillar myopathy V1_11/2014/Page 3 of 5 domains. One mutation, p.Pro209Leu, which causes myofibrillar myopathy has been reported ... Read Full Source

Www.uta.fi
ZASP-related myofibrillar myopathy Cardiomyopathy, dilated, 1C LOSMoN founder haplotype Gene Spinal muscular atrophy, distal, autosomal recessive, 5 (DSMA5) Type of analysis sequencing of exon 1 sequencing of exons 5 and 20 sequencing of exon 3 ... Access Content

Hereditary Muscular Dystrophies And The Heart - ResearchGate
Hereditary muscular dystrophies and the heart M.C.E. Hermansa,*, Y.M. Pintob, myopathy and may even be the presenting or predominant symp- ZASP-related MFM ZASP; 10q22.2–q23.3 BAG3 related MFM BAG3: 10q25.2–q26.2 ... Return Doc

Www.flyrnai.org
Cardiomyopathy, dilated ; Cardiomyopathy, dilated, with left ventricular noncompaction ; Myopathy, myofibrillar, ZASP-related scarface CG14542 CHMP2B; DMT1; VPS2B Amyotrophic lateral sclerosis, CHMP2B-related ; Dementia, familial, nonspecific CG32030 ... Access Doc

Zaspopathy - Wikipedia, The Free Encyclopedia
Zaspopathy, [1] also called ZASP-related myofibril myopathy, [2] is a novel autosomal dominant [3] form of progressive muscular dystrophy, first described in 2005. ... Read Article

DISTAALINEN MYOFIBRILLAARINEN MYOPATIA, ZASP-GEENIN MUTAATIOT
Myofibrillaarista myopatiaa (ZASP-related myofibrillar myopathy) aiheuttavat mutaatiot on löydetty. Mutaatiot sijaitsevat eksonissa 6. Lähete Atk-pyyntö. Mikäli atk-pyyntöä ei ole mahdollista tehdä,€täytetään huolellisesti€lähete TAY:n ... View This Document

Pathophysiological And Pharmacological Research In Cardiology
Myopathy (ARVC), and unclassified cardiomyopathy. Among these cardiomyopathies, ZASP mutations can cause MFM (also called ZASP-related myopathy) that is characterized by abnormal accumu-lation of multiple proteins.38) cystein- and glycin-rich protein 3 ... Retrieve Full Source