Browsing Medicina, ciencias biomédicas y salud pública by Author "b379df21-0dad-4486-b5f1-a5bf3d0fe969"
Now showing items 1-11 of 11
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A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3
Leal Esquivel, Alejandro; Morera Brenes, Bernal; del Valle Carazo, Gerardo; Heuss, Dieter; Kayser, Corinna; Berghoff, Martin; Villegas Palma, Ramón; Hernández, Erick; Méndez, María; Hennies, Hans Christian; Bernhard, Neundörfer; Barrantes Mesén, Ramiro; Reis, André; Rautenstrauss, Bernd (American Journal Human Genetic ; 68 (1 p. 269-274, 2001)Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus ... -
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family
Leal Esquivel, Alejandro; Berghoff, Corinna; Berghoff, Martin; del Valle Carazo, Gerardo; Contreras, Carlos; Montoya, Olga; Hernández, Erick; Barrantes Mesén, Ramiro; Schlötzer Schrehardt, Ursula; Neundörfer, Bernhard; Reis, André; Rautenstrauss, Bernd; Heuss, Dieter (Neurogenetics : 4 (4) p. 191-197, 2003-07-05)Abstract. Charcot-Marie-Tooth disease type IB (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion and compaction of peripheral myelin. ... -
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3
Berghoff, Corinna; Berghoff, Martin; Leal Esquivel, Alejandro; Morera Brenes, Bernal; Reis, André; Neundörfer, Bernhard; Bernd, Rautenstrauss; del Valle Carazo, Gerardo; Heuss, Dieter (Neurimuscular Disorder 14 (5) 301-306, 2004)Cbarcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of hereditary motor and sensory peripheral neuropathies. The autosomal recessive axonal form of CMT (ARCMT2) is ram. Eight patients of a large consanguineous ... -
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
Morales Montero, Fernando; Cuenca Berger, Patricia; del Valle Carazo, Gerardo; Vásquez Cerdas, Melissa; Brian Gago, Roberto; Sittenfeld Appel, Mauricio; Johnson, Keith; Lin, Xi; Ashizawa, Tetsuo (Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm ... -
Diagnóstico molecular de la distrofia miotónica (DM) en Costa Rica
Morales Montero, Fernando; Cuenca Berger, Patricia; Brian Gago, Roberto; Sittenfeld Appel, Mauricio; del Valle Carazo, Gerardo (Acta Medica Costarricense :43 (4) p. 159-167, 2001-10)La Distrofia Miotónica es una enfermedad multisistémica de herencia autosómica dominante. El defecto molecular es una expansión del trinucleótido CTG presente en Ia región 3' no codificante (3' UTR) del gen DMPK, localizado ... -
Estudio intergeneracional de la mutación que causa la distrofia miotónica de tipo 1 en Costa Rica
Morales Montero, Fernando; Cuenca Berger, Patricia; Brian Gago, Roberto; Sittenfeld Appel, Mauricio; del Valle Carazo, Gerardo (Revista de Neurología 2003; 36: 20-25, 2003-01-01)Introduction. Myotonic dystrophy type 1 is a neuromuscular, degenerative and progressive disease, with an autosomal dominant pattern of inheritance, variable eTressivity and incomplete penetrance. The genetic defect is ... -
Estudios genético-moleculares de miotonías hereditarias en la población costarricense
Vásquez Cerdas, Melissa; Vindas Smith, Rebeca; Cuenca Berger, Patricia; Del Valle Carazo, Gerardo; Morales Montero, Fernando (2022-01)Introducción: las miotonías hereditarias son enfermedades del músculo esquelético, clínica y genéticamente heterogéneas, caracterizadas por presentar miotonía (retraso en la relajación muscular). Se dividen en distróficas ... -
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
Brenes García, Oscar Gerardo; Barbieri, Raffaella; Vásquez Cerdas, Melissa; Vindas Smith, Rebeca; Roig Fernández Jeffry; Romero Vásquez, Adarli; del Valle Carazo, Gerardo; Bermúdez Guzmán, Luis; Bertelli, Sara; Pusch, Michael; Morales Montero, Fernando (2021)Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with ... -
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
Vindas Smith, Rebeca; Fiore, Michele; Vásquez Cerdas, Melissa; Cuenca Berger, Patricia; del Valle Carazo, Gerardo; Lagostena, Laura; Gaitán Peñas, Héctor; Estevez Povedano, Raúl; Push, Michael; Morales Montero, Fernando (2016)Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed ... -
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1
Morales Montero, Fernando; Vásquez Cerdas, Melissa; Cuenca Berger, Patricia; Campos Ramírez, Domingo; Santamaría Ulloa, Carolina; del Valle Carazo, Gerardo; Brian Gago, Roberto; Sittenfeld Appel, Mauricio; Monckton, Darren G. (European Journal of Human Genetics p.1-8, 2014-07-23)Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated ... -
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity
Higham, Catherine; Hogg, Grant; Braida, Claudia; del Valle Carazo, Gerardo; Brian Gago, Roberto; Sittenfeld Appel, Mauricio; Ashizawa, Tetsuo; Wilcox, Alison; Couto, Jillian M.; Morales Montero, Fernando; Cuenca Berger, Patricia; Wilson, Richard H.; Adam, Berit; Wilcox, Dougals E.; Monckton, Darren G. (Human Molecular Genetics, 2012 Vol. 21, No. 16. 3558–3567, 2012-05-30)Deciphering the contribution of genetic instability in somatic cells is critical to our understanding of many human disorders. Myotonic dystrophy type 1 (DM1) is one such disorder that is caused by the expansion of a CTG ...