A new case with a splicing PIEZO2 mutation causing distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

被引：0

作者：

Almeida, Pedro M. ^{[1
,2
]}

Simoes, Maria Jose ^{[3
]}

Sa, Joaquim ^{[1
,5
]}

Pereira, Janet ^{[4
]}

Ribeiro, Carolina ^{[5
]}

Froufe, Hugo ^{[3
]}

Egas, Conceicao ^{[3
,6
]}

Pinto, Sofia ^{[7
]}

Correia, Catarina ^{[7
]}

Saraiva, Jorge M. ^{[1
,8
]}

Ramos, Fabiana ^{[1
]}

机构：

[1] Ctr Hosp & Univ Coimbra, Med Genet Unit, Hosp Pediat, Coimbra, Portugal

[2] Univ Beira Interior, Fac Hlth Sci, Covilha, Portugal

[3] Biocant, Next Generat Sequencing Unit, Genoinseq, Cantanhede, Portugal

[4] Ctr Hosp & Univ Coimbra, Dept Hematol, Coimbra, Portugal

[5] Univ Coimbra, Med Genet Inst, Fac Med, UC Genom, Coimbra, Portugal

[6] Univ Coimbra, Ctr Neurosci & Cell Biol, Coimbra, Portugal

[7] Coimbra Genom, Cantanhede, Portugal

[8] Univ Coimbra, Univ Clin Pediat, Fac Med, Coimbra, Portugal

来源：

MEDICINE | 2020年 / 99卷 / 09期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P84

引用

页数：1

共 33 条

[21] Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms
Ma, Yanbo
Zhao, Yantao
Cai, Zhen
Hao, Xiuyan
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2019, 17 (05) : 3518 - 3524
[22] A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism
Bertoli, M.
Topf, A.
Harris, E.
Laval, S.
Sarkozy, A.
Lochmueller, H.
Lynch, S.
Straub, V.
NEUROMUSCULAR DISORDERS, 2015, 25 : S276 - S277
[23] Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis (vol 99, pg 1206, 2016)
Delle Vedove, Andrea
Storbeck, Markus
Heller, Raoul
Hoelker, Irmgard
Hebbar, Malavika
Shukla, Anju
Magnusson, Olafur
Cirak, Sebahattin
Girisha, Katta M.
O'Driscoll, Mary
Loeys, Bart
Wirth, Brunhilde
AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (06) : 1406 - 1408
[24] PIEZO2-associated distal arthrogryposis: phenotypic spectrum and genotypephenotype correlations in a multicenter case series
Akinci, G.
Cinar, E.
Gunay, C.
Ardicli, D.
Degerliyurt, A.
Ozyilmaz, B.
Ceylan, A.
Yis, U.
Topaloglu, H.
NEUROMUSCULAR DISORDERS, 2024, 43
[25] Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
Li, Shan
You, Yi
Gao, Jinsong
Mao, Bin
Cao, Yixuan
Zhao, Xiuli
Zhang, Xue
BMC MEDICAL GENETICS, 2018, 19
[26] A case of MAGEL2 mutation in a patient with prenatally diagnosed distal arthrogryposis and severe neonatal hypotonia
Stoeva, R.
Flurin, V.
Denoual, H.
Ziegler, A.
Mantel, A.
Bouligand, J.
Melki, J.
Coignard, D. Martin
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 980 - 980
[27] A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
Fionda, Laura
Turon-Sans, Janina
Fuentes Prior, Pablo
Bernal Noguera, Sara
Cortes-Vicente, Elena
Lopez-Perez, Maria Angeles
Gallardo, Eduard
Rojas-Garcia, Ricard
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (01) : 113 - 117
[28] Genotype-driven WES analysis identifies novel compound heterozygous splice-site mutations inPIEZO2causing a unique variant of distal arthrogryposis with impaired proprioception & touch
Darmani, E.
Kydonopoulou, K.
Papadopoulou, E.
Gerou, S.
Kambouris, M.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1484 - 1484
[29] A NEW SYT2 MUTATION CAUSING PRESYNAPTIC NEUROMUSCULAR JUNCTION DYSFUNCTION AND DISTAL MOTOR NEUROPATHY (LEMS-CMT)
Montes-Chinea, N., I
Coutts, M.
Vidal, C.
Courel, S.
Rebelo, A.
Abreu, L.
Zuchner, S.
Saporta, M. A.
MUSCLE & NERVE, 2017, 56 : S13 - S13
[30] A NEW SYT2 MUTATION CAUSING PRESYNAPTIC NEUROMUSCULAR JUNCTION DYSFUNCTION AND DISTAL MOTOR NEUROPATHY (LEMS-CMT)
Montes-Chinea, N., I
Coutts, M.
Vidal, C.
Courel, S.
Rebelo, A.
Abreu, L.
Zuchner, S.
Saporta, M. A.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 342 - 342

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